| human | Q5 |
| P6178 | Dimensions author ID | 014514614637.17 |
| P1960 | Google Scholar author ID | mTwxIrQAAAAJ |
| P496 | ORCID iD | 0000-0002-6313-9005 |
| P1153 | Scopus author ID | 7003842049 |
| P8207 | The Conversation author ID | 8083 |
| P2002 | X username | SoutheyMelissa |
| P69 | educated at | University of Melbourne | Q319078 |
| P108 | employer | University of Melbourne | Q319078 |
| Monash University | Q598841 | ||
| University of Melbourne Melbourne Medical School | Q101006153 | ||
| P734 | family name | Southey | Q21449316 |
| Southey | Q21449316 | ||
| Southey | Q21449316 | ||
| P735 | given name | Melissa | Q830357 |
| Melissa | Q830357 | ||
| P106 | occupation | molecular geneticist | Q15839158 |
| researcher | Q1650915 | ||
| P21 | sex or gender | female | Q6581072 |
| Q64115284 | 10-year performance of four models of breast cancer risk: a validation study |
| Q108926079 | 1152Use of Facebook to recruit cohort study participants |
| Q36016386 | 11q13 is a susceptibility locus for hormone receptor positive breast cancer |
| Q35871567 | 19p13.1 is a triple-negative-specific breast cancer susceptibility locus |
| Q33848895 | 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy |
| Q54569428 | 5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia. |
| Q36021406 | 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium |
| Q37169873 | 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium |
| Q51569689 | A BRCA1 promoter variant (rs11655505) and breast cancer risk. |
| Q90453820 | A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer |
| Q34613667 | A PALB2 mutation associated with high risk of breast cancer |
| Q57265744 | A Systematic Approach to Analysing Gene-Gene Interactions: Polymorphisms at the Microsomal Epoxide Hydrolase EPHX and Glutathione S-transferase GSTM1, GSTT1, and GSTP1 Loci and Breast Cancer Risk |
| Q59355837 | A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk |
| Q57250674 | A common coding variant in CASP8 is associated with breast cancer risk |
| Q35755874 | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer |
| Q35957063 | A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density |
| Q37272982 | A genome wide linkage search for breast cancer susceptibility genes |
| Q35093501 | A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer |
| Q33747778 | A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. |
| Q56436562 | A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3 |
| Q29417036 | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. |
| Q35889669 | A genome-wide linkage study of mammographic density, a risk factor for breast cancer |
| Q38313514 | A high-plex PCR approach for massively parallel sequencing. |
| Q37619303 | A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium |
| Q35089479 | A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population |
| Q35248192 | A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer |
| Q36435849 | A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. |
| Q36477652 | A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease |
| Q46944120 | A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium |
| Q92711687 | A network analysis to identify mediators of germline-driven differences in breast cancer prognosis |
| Q36152991 | A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers |
| Q37399509 | A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis |
| Q57305948 | A prospective study of peripheral blood DNA methylation at RPTOR, MGRN1 and RAPSN and risk of breast cancer |
| Q57265807 | A protein-truncating mutation inCYP17A1 in three sisters with early-onset breast cancer |
| Q31109774 | A range of simple summary genome-wide statistics for detecting genetic linkage using high density marker data |
| Q37599352 | A role for XRCC2 gene polymorphisms in breast cancer risk and survival |
| Q47818883 | A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1. |
| Q34998516 | A three-protein biomarker panel assessed in diagnostic tissue predicts death from prostate cancer for men with localized disease |
| Q57305942 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer |
| Q36043159 | ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry |
| Q51582208 | Abridged adapter primers increase the target scope of Hi-Plex. |
| Q92102602 | Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool |
| Q57306033 | Active tyrosine phosphatase in immunoprecipitates of multiple isoforms of Ly-5 |
| Q33912818 | Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study |
| Q38406780 | Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study |
| Q52647897 | Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study. |
| Q50977654 | Adult serum cytokine concentrations and the persistence of asthma. |
| Q24535695 | After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer |
| Q56437837 | AfterhMSH2 andhMLH1?what next? Analysis of three-generational, population-based, early-onset colorectal cancer families |
| Q39437211 | Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers |
| Q58613780 | Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC) |
| Q91596727 | Alcohol consumption is associated with widespread changes in blood DNA methylation: Analysis of cross-sectional and longitudinal data |
| Q91518331 | Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC) |
| Q92487400 | Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report |
| Q33904733 | An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome |
| Q36073563 | An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression |
| Q24170413 | Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types |
| Q38378456 | Analysis of the breast cancer methylome using formalin-fixed paraffin-embedded tumour |
| Q97561358 | Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay |
| Q57306018 | Androgen Receptor Exon 1 CAG Repeat Length and Breast Cancer in Women Before Age Forty Years |
| Q112718021 | Androgens alter the heterogeneity of small extracellular vesicles and the small RNA cargo in prostate cancer |
| Q57305998 | Are PALB2 mutations associated with increased risk of male breast cancer? |
| Q36787357 | Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? |
| Q34613673 | Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study |
| Q88159791 | Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study |
| Q37684409 | Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer |
| Q45979098 | Association analysis identifies 65 new breast cancer risk loci. |
| Q40317688 | Association between DNA methylation at SOCS3 gene and body mass index might be due to familial confounding |
| Q33828680 | Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival |
| Q47903752 | Association of DNA Methylation-Based Biological Age with Health Risk Factors, and Overall and Cause-Specific Mortality |
| Q37292963 | Association of ESR1 gene tagging SNPs with breast cancer risk |
| Q91271723 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness |
| Q36178189 | Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. |
| Q36191018 | Association of breast cancer risk loci with breast cancer survival |
| Q37684672 | Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. |
| Q37268494 | Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry |
| Q114182713 | Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment |
| Q99609984 | Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer |
| Q47690269 | Associations of alcohol intake, smoking, physical activity and obesity with survival following colorectal cancer diagnosis by stage, anatomic site and tumor molecular subtype |
| Q35022847 | Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies |
| Q35523236 | Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers |
| Q35532898 | Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium |
| Q54679615 | Associations of mammographic dense and nondense areas and body mass index with risk of breast cancer. |
| Q57056093 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis |
| Q36792641 | Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation |
| Q63966080 | Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci |
| Q64118820 | Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci |
| Q44953939 | Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics |
| Q37416050 | BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research |
| Q34571646 | BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. |
| Q36617295 | BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer |
| Q36420531 | BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study |
| Q38914005 | BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer |
| Q37002955 | BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers |
| Q42506232 | BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays |
| Q91375393 | Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort |
| Q64052468 | Blood DNA methylation and breast cancer risk: a meta-analysis of four prospective cohort studies |
| Q38864714 | Blood pressure and risk of breast cancer, overall and by subtypes: a prospective cohort study |
| Q46115524 | Body mass index and breast cancer survival: a Mendelian randomization analysis |
| Q34883523 | Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers |
| Q90269784 | Body size and dietary risk factors for aggressive prostate cancer: a case-control study |
| Q38403904 | Body size and risk for colorectal cancers showing BRAF mutations or microsatellite instability: a pooled analysis |
| Q100457582 | Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk |
| Q57265621 | Breast Cancer Prognosis inBRCA1andBRCA2Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study |
| Q39734134 | Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States |
| Q36619329 | Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry |
| Q34327945 | Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 |
| Q35609710 | Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry |
| Q37410693 | Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab |
| Q35940158 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. |
| Q57305977 | Breast-Cancer Risk in Families With Mutations in PALB2 |
| Q34148873 | Breast-cancer risk in families with mutations in PALB2 |
| Q41004860 | CFTR deltaF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control study |
| Q36449203 | CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer |
| Q57306024 | COEXISTENT T-CELL LYMPHOBLASTIC LYMPHOMA AND AN ATYPICAL MYELOPROLIFERATIVE DISORDER ASSOCIATED WITH t(8;13)(p21;q14) |
| Q36998293 | COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration |
| Q24810733 | CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study |
| Q73088381 | CYP17 promoter polymorphism and breast cancer in Australian women under age forty years |
| Q92005489 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families |
| Q114657791 | Cancer Risks Associated With and Pathogenic Variants |
| Q57265774 | Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study |
| Q30461804 | Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer |
| Q34963894 | Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q28385765 | Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk |
| Q49874632 | Causal effect of smoking on DNA methylation in peripheral blood: a twin and family study. |
| Q57305951 | Causes of blood methylomic variation for middle-aged women measured by the HumanMethylation450 array |
| Q37586899 | Characterisation of microbial communities within aggressive prostate cancer tissues |
| Q96962174 | Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) |
| Q28248238 | Chromosomal localization of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family |
| Q57466966 | Circulating concentrations of B group vitamins and urothelial cell carcinoma |
| Q92282006 | Cirrus: An Automated Mammography-Based Measure of Breast Cancer Risk Based on Textural Features |
| Q35782435 | Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer |
| Q41363310 | Coexistent T-cell lymphoblastic lymphoma and an atypical myeloproliferative disorder associated with t(8;13)(p21;q14). |
| Q40706266 | Cohort Profile: Melbourne Atopy Cohort study (MACS). |
| Q40149181 | Cohort Profile: The Melbourne Collaborative Cohort Study (Health 2020). |
| Q40641928 | Cohort Profile: The Tasmanian Longitudinal Health STUDY (TAHS). |
| Q35925149 | Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study |
| Q28284149 | Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features |
| Q94486442 | Combined associations of a polygenic risk score and classical risk factors with breast cancer risk |
| Q37368000 | Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms |
| Q35668946 | Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk |
| Q36490507 | Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). |
| Q35889575 | Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. |
| Q36600605 | Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk |
| Q33742096 | Common genetic variants and modification of penetrance of BRCA2-associated breast cancer |
| Q43166839 | Common genetic variants associated with breast cancer and mammographic density measures that predict disease |
| Q35794653 | Common germline polymorphisms associated with breast cancer-specific survival |
| Q34379032 | Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium |
| Q36393232 | Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers |
| Q35870067 | Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q36255665 | Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer |
| Q34792833 | Common variants in ZNF365 are associated with both mammographic density and breast cancer risk |
| Q34213403 | Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers |
| Q104263819 | Comparing Five-Year and Lifetime Risks of Breast Cancer in the Prospective Family Study Cohort |
| Q33679480 | Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age. |
| Q31082788 | Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
| Q40718941 | Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations |
| Q28652730 | Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing |
| Q57265680 | Comprehensive analysis of the cytokine-rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk |
| Q34181322 | Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer |
| Q34594697 | Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1_937_G variant |
| Q90481059 | Considerations when using breast cancer risk models for women with negative BRCA1/BRCA2 mutation results |
| Q34342248 | Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk |
| Q33646285 | Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer |
| Q35029565 | Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry |
| Q57266620 | Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer |
| Q45793899 | Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer. |
| Q57278898 | Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
| Q49498050 | Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. |
| Q28388475 | Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations |
| Q34914942 | Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing. |
| Q92184158 | Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer |
| Q36694276 | Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: a case-control study |
| Q33893710 | DNA Methylation in Breast Tumor from High-risk Women in the Breast Cancer Family Registry |
| Q21144874 | DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q40579950 | DNA methylation changes measured in pre-diagnostic peripheral blood samples are associated with smoking and lung cancer risk |
| Q99593539 | DNA methylation in peripheral blood and risk of gastric cancer: a prospective nested case-control study |
| Q90858079 | DNA methylation-based biological age, genome-wide average DNA methylation, and conventional breast cancer risk factors |
| Q48192088 | DNA methylation-based biological aging and cancer risk and survival: Pooled analysis of seven prospective studies |
| Q37685729 | DNA mismatch repair gene MSH6 implicated in determining age at natural menopause |
| Q43218563 | De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation |
| Q35587019 | Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes |
| Q33995664 | Design considerations for massively parallel sequencing studies of complex human disease |
| Q33898712 | Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2. |
| Q34045208 | Detection of infectious organisms in archival prostate cancer tissues |
| Q33588213 | Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers |
| Q92380095 | Dietary Intake of Nutrients Involved in One-Carbon Metabolism and Risk of Gastric Cancer: A Prospective Study |
| Q49990651 | Dietary intake of nutrients involved in one-carbon metabolism and risk of urothelial cell carcinoma: A prospective cohort study. |
| Q90909804 | Dietary intake of one-carbon metabolism nutrients and DNA methylation in peripheral blood |
| Q60472142 | Discovery of common and rare genetic risk variants for colorectal cancer |
| Q45785989 | Disseminated, multiclonal Epstein-Barr virus-associated lymphoproliferative disease in a patient with hematological and immunological anomalies. Molecular analysis correlates with morphological appearance |
| Q57265812 | Double-Strand Break Repair Gene Polymorphisms and Risk of Breast or Ovarian Cancer |
| Q57305981 | Dynamic changes in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers during various murine peripartum states and over time |
| Q92405306 | Dysfunctional epigenetic aging of the normal colon and colorectal cancer risk |
| Q28208394 | ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer |
| Q57306026 | EWS/FLI-1 Fusion Transcript Detection and MIC2 Immunohistochemical Staining in the Diagnosis of Ewing's Sarcoma |
| Q112647371 | Early life affects late-life health through determining DNA methylation across the lifespan: A twin study |
| Q53408150 | Effects of Tamoxifen and oestrogen on histology and radiographic density in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers. |
| Q40266305 | Ejaculatory frequency and the risk of aggressive prostate cancer: Findings from a case-control study |
| Q38720533 | Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci |
| Q24633316 | Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer |
| Q47196130 | Epigenetic supersimilarity of monozygotic twin pairs |
| Q64078095 | Epigenome-wide association study for lifetime estrogen exposure identifies an epigenetic signature associated with breast cancer risk |
| Q57265567 | Epigenome-wide methylation in DNA from peripheral blood as a marker of risk for breast cancer |
| Q36487146 | Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk |
| Q57250672 | Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk |
| Q57202568 | Erratum: Corrigendum: Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk |
| Q91388575 | Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers |
| Q57306021 | Estrogen Receptor Polymorphism at Codon 325 and Risk of Breast Cancer in Women Before Age Forty |
| Q57100396 | Ethnicity and Risk for Colorectal Cancers Showing Somatic BRAF V600E Mutation or CpG Island Methylator Phenotype |
| Q36966218 | Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study |
| Q33614244 | Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers |
| Q30657823 | Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines |
| Q91549968 | Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk |
| Q36352389 | Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers |
| Q40351114 | Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients |
| Q35653910 | Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk |
| Q36720821 | Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors |
| Q35064451 | Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation |
| Q37342144 | Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation |
| Q45918948 | Explaining variance in the cumulus mammographic measures that predict breast cancer risk: a twins and sisters study. |
| Q33863235 | Exploring the link between MORF4L1 and risk of breast cancer |
| Q31961438 | Expression of the P2Y6 purinergic receptor in human T cells infiltrating inflammatory bowel disease. |
| Q34209800 | FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer |
| Q47556967 | FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine |
| Q36689951 | FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets |
| Q37594336 | FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium |
| Q57306010 | Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations |
| Q43256458 | Familial correlations in postmenopausal serum concentrations of sex steroid hormones and other mitogens: a twins and sisters study |
| Q37308563 | Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry |
| Q45137915 | Family-based association study of IGF1 microsatellites and height, weight, and body mass index |
| Q51811339 | Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk. |
| Q37236216 | Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). |
| Q36111237 | Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus |
| Q36087170 | Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers |
| Q35524465 | Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. |
| Q61230414 | Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes |
| Q92480972 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes |
| Q55311842 | Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants. |
| Q35063160 | Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk |
| Q39844032 | Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer |
| Q36248936 | Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk |
| Q34903062 | Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. |
| Q37367871 | Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. |
| Q34979715 | Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium |
| Q114182808 | Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element |
| Q36124728 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus |
| Q36742577 | Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers |
| Q36956156 | GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer |
| Q57305966 | Gene panel testing for hereditary breast cancer |
| Q40137431 | Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium |
| Q36175072 | Gene-panel sequencing and the prediction of breast-cancer risk |
| Q33589487 | Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes |
| Q115209620 | Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus |
| Q40363977 | Genetic and Environmental Causes of Variation in the Difference Between Biological Age Based on DNA Methylation and Chronological Age for Middle-Aged Women |
| Q57306006 | Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance |
| Q100943997 | Genetic and environmental causes of variation in epigenetic aging across the lifespan |
| Q108609948 | Genetic insights into biological mechanisms governing human ovarian ageing |
| Q37739048 | Genetic modifiers of CHEK2*1100delC-associated breast cancer risk |
| Q29417068 | Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study |
| Q92588645 | Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes |
| Q35925620 | Genetic predisposition to ductal carcinoma in situ of the breast |
| Q35151684 | Genetic predisposition to in situ and invasive lobular carcinoma of the breast |
| Q98286256 | Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? |
| Q46432976 | Genetic variants in the vitamin D receptor gene and prostate cancer risk |
| Q26775022 | Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome |
| Q35179897 | Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study |
| Q34378972 | Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade |
| Q36422109 | Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium |
| Q43167965 | Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants |
| Q89737463 | Genetically Determined Height and Risk of Non-hodgkin Lymphoma |
| Q30000080 | Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent |
| Q28393571 | Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes |
| Q45024538 | Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. |
| Q39002788 | Genome-Wide Measures of Peripheral Blood Dna Methylation and Prostate Cancer Risk in a Prospective Nested Case-Control Study |
| Q28388497 | Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types |
| Q59544977 | Genome-wide DNA methylation assessment of ‘BRCA1-like’ early-onset breast cancer: Data from the Australian Breast Cancer Family Registry |
| Q36842233 | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| Q37637724 | Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia |
| Q35996692 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer |
| Q63681757 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer |
| Q40718874 | Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. |
| Q109309630 | Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging |
| Q24622610 | Genome-wide association studies identify four ER negative-specific breast cancer risk loci |
| Q29417100 | Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer |
| Q95329367 | Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses |
| Q35061252 | Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk |
| Q28248768 | Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma |
| Q24645441 | Genome-wide association study identifies novel breast cancer susceptibility loci |
| Q27008356 | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk |
| Q64040390 | Genome-wide association study of germline variants and breast cancer-specific mortality |
| Q91265679 | Genome-wide association study of peripheral blood DNA methylation and conventional mammographic density measures |
| Q38970751 | Genome-wide association study of prostate cancer-specific survival |
| Q33778612 | Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. |
| Q51764859 | Genome-wide average DNA methylation is determined in utero. |
| Q40636379 | Genome-wide measures of DNA methylation in peripheral blood and the risk of urothelial cell carcinoma: a prospective nested case-control study |
| Q33296082 | Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies |
| Q59566871 | Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility |
| Q38823212 | Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk |
| Q33901605 | Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development |
| Q96432094 | Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk |
| Q34414768 | Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. |
| Q36602836 | Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. |
| Q98775276 | Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer |
| Q114182677 | Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis |
| Q47212637 | Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases |
| Q40200164 | Global measures of peripheral blood-derived DNA methylation as a risk factor in the development of mature B-cell neoplasms |
| Q37274209 | HFE C282Y homozygotes are at increased risk of breast and colorectal cancer |
| Q37149526 | HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity |
| Q54465029 | HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes. |
| Q57306020 | HRAS1 Rare Minisatellite Alleles and Breast Cancer in Australian Women Under Age Forty Years |
| Q35382206 | Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers |
| Q36276540 | Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization |
| Q38647896 | Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium |
| Q62583666 | Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium |
| Q52371352 | Heritable DNA methylation marks associated with susceptibility to breast cancer. |
| Q91079972 | Heritable methylation marks associated with breast and prostate cancer risk |
| Q33330850 | Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics |
| Q36547888 | Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers |
| Q35037312 | Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2 |
| Q34765405 | Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| Q91571366 | Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening |
| Q39597471 | High and low mammographic density human breast tissues maintain histological differential in murine tissue engineering chambers |
| Q92716347 | Homologous recombination DNA repair defects in PALB2-associated breast cancers |
| Q36379584 | Hypomethylation of smoking-related genes is associated with future lung cancer in four prospective cohorts |
| Q35102646 | Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk |
| Q37006170 | Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. |
| Q30252854 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer |
| Q29417155 | Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array |
| Q36720814 | Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk |
| Q36062033 | Identification of a novel percent mammographic density locus at 12q24. |
| Q34975918 | Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript |
| Q39321320 | Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site |
| Q36859142 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer |
| Q36086247 | Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus |
| Q37074763 | Identification of new genetic risk factors for prostate cancer |
| Q34038964 | Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions |
| Q57170142 | Identification of nine new susceptibility loci for endometrial cancer |
| Q36014067 | Identification of novel genetic markers of breast cancer survival |
| Q29417022 | Identification of seven new prostate cancer susceptibility loci through a genome-wide association study |
| Q35541663 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer |
| Q46103372 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer |
| Q57305995 | Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue |
| Q90293539 | Improving our understanding of breast cancer tumorigenesis across ethnicities |
| Q23924183 | Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33 |
| Q57265784 | In Reply: |
| Q34250215 | Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations |
| Q37708268 | Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry |
| Q111534534 | Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts |
| Q57305946 | Inference about causation between body mass index and DNA methylation in blood from a twin family study |
| Q37410472 | Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women |
| Q35104068 | Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer |
| Q89748385 | Integrating DNA methylation measures to improve clinical risk assessment: are we there yet? The case of BRCA1 methylation marks to improve clinical risk assessment of breast cancer |
| Q57265634 | Interleukin-6 promoter variants, prostate cancer risk, and survival |
| Q34081324 | Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer |
| Q44467624 | Interpretation of genomic variation and disease association: the great missense mutation challenge! |
| Q90690238 | Interval breast cancer risk associations with breast density, family history and breast tissue aging |
| Q34898735 | Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors |
| Q28264901 | Iron-overload-related disease in HFE hereditary hemochromatosis |
| Q57265722 | Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer? |
| Q53227682 | Is MSH2 a breast cancer susceptibility gene? |
| Q50109358 | Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations? |
| Q84533635 | Is uptake of genetic testing for colorectal cancer influenced by knowledge of insurance implications? |
| Q64279327 | Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk |
| Q47190168 | Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium |
| Q57265789 | Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration |
| Q57191573 | Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair |
| Q28267893 | Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair |
| Q29416989 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk |
| Q57305999 | Letter in response to “Identifying Lynch syndrome” by de la Chapelle et al |
| Q39102623 | Lifetime alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- but not BRAF+ colorectal cancer |
| Q24802704 | Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA) |
| Q35119701 | Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium |
| Q53345216 | Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years. |
| Q46737936 | Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma |
| Q72709845 | Lymphoproliferative disease of donor origin arising in patients after orthotopic liver transplantation |
| Q57265792 | Macrophage Inhibitory Cytokine-1 H6D Polymorphism, Prostate Cancer Risk, and Survival |
| Q44439883 | Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer |
| Q31043651 | Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. |
| Q36043843 | Mammographic breast density and breast cancer: evidence of a shared genetic basis |
| Q44758736 | Mammographic density and candidate gene variants: a twins and sisters study |
| Q37018080 | Mammographic density and risk of breast cancer by mode of detection and tumor size: a case-control study |
| Q47116028 | Mammographic density and risk of breast cancer by tumor characteristics: a case-control study |
| Q41010078 | Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk |
| Q38463411 | Medical radiation exposure and breast cancer risk: findings from the Breast Cancer Family Registry |
| Q114182490 | Mendelian randomisation study of smoking exposure in relation to breast cancer risk |
| Q98772941 | Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer |
| Q36675182 | Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia |
| Q30558412 | Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery |
| Q92890447 | Methylation alteration of SHANK1 as a predictive, diagnostic and prognostic biomarker for chronic lymphocytic leukemia |
| Q101476975 | Methylation marks of prenatal exposure to maternal smoking and risk of cancer in adulthood |
| Q36208014 | Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry |
| Q34497352 | MicroRNA related polymorphisms and breast cancer risk |
| Q57265760 | Microsatellite Instability Markers for Identifying Early-Onset Colorectal Cancers Caused by Germ-Line Mutations in DNA Mismatch Repair Genes |
| Q89724384 | Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer |
| Q34123806 | Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls |
| Q57305979 | Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families |
| Q57306013 | Molecular Pathologic Analysis Enhances the Diagnosis and Management of Muir-Torre Syndrome and Gives Insight Into Its Underlying Molecular Pathogenesis |
| Q38478044 | Molecular analysis in the diagnosis of pediatric lymphomas |
| Q57306007 | Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families |
| Q36836105 | Molecular cloning and sequencing of a novel human P2 nucleotide receptor |
| Q57306002 | Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases |
| Q34727284 | Morphological predictors of BRCA1 germline mutations in young women with breast cancer. |
| Q91640018 | Mortality after breast cancer as a function of time since diagnosis by estrogen receptor status and age at diagnosis |
| Q39663124 | Mould-sensitized adults have lower Th2 cytokines and a higher prevalence of asthma than those sensitized to other aeroallergens. |
| Q24658557 | Multigene testing of moderate-risk genes: be mindful of the missense |
| Q36897003 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer |
| Q50582715 | Multiple loci on 8q24 associated with prostate cancer susceptibility. |
| Q28268180 | Multiple newly identified loci associated with prostate cancer susceptibility |
| Q30491647 | Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium |
| Q35646703 | Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans |
| Q57306016 | Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients |
| Q40391254 | Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study. |
| Q35972599 | Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry |
| Q49024646 | Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations. |
| Q26799669 | Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk |
| Q37356243 | Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. |
| Q57265727 | No Association between Common Chemokine and Chemokine Receptor Gene Variants and Prostate Cancer Risk |
| Q30374367 | No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. |
| Q48064622 | No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study |
| Q37308596 | No evidence that GATA3 rs570613 SNP modifies breast cancer risk |
| Q37079859 | No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing |
| Q44122211 | No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years |
| Q35752042 | Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures |
| Q56359054 | Novel Common Genetic Susceptibility Loci for Colorectal Cancer |
| Q28210364 | Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients |
| Q47248476 | Novel associations between blood DNA methylation and body mass index in middle-aged and older adults |
| Q102071700 | Novel mammogram-based measures improve breast cancer risk prediction beyond an established mammographic density measure |
| Q48231387 | Obtaining high quality transcriptome data from formalin-fixed, paraffin-embedded diagnostic prostate tumor specimens |
| Q92281866 | Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study |
| Q34398269 | Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations |
| Q36280191 | Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers |
| Q92454341 | Overall lack of replication of associations between dietary intake of folate and vitamin B-12 and DNA methylation in peripheral blood |
| Q32061480 | Overexpression of the steroid receptor coactivator AIB1 in breast cancer correlates with the absence of estrogen and progesterone receptors and positivity for p53 and HER2/neu. |
| Q90628265 | PALB2 Genetic Variants: Can Functional Assays Assist Translation? |
| Q37074279 | PALB2 and breast cancer: ready for clinical translation! |
| Q28584533 | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS |
| Q26751309 | PALB2: research reaching to clinical outcomes for women with breast cancer |
| Q47143943 | PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. |
| Q34778710 | PIK3CA activating mutation in colorectal carcinoma: associations with molecular features and survival |
| Q36184231 | PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2. |
| Q34289136 | Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche |
| Q112572520 | Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes |
| Q35737888 | Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) |
| Q27851443 | Penetrance analysis of the PALB2 c.1592delT founder mutation |
| Q58105427 | Physical Activity, Television Viewing Time, and DNA Methylation in Peripheral Blood |
| Q34059662 | Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: results from an Australian population-based case-control study |
| Q62583133 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes |
| Q97524107 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants |
| Q36066735 | Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression |
| Q34606248 | Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. |
| Q73022855 | Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study |
| Q35587015 | Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study |
| Q45062920 | Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry |
| Q99408786 | Postmenopausal Hormone Therapy and Colorectal Cancer Risk by Molecularly Defined Subtypes and Tumor Location |
| Q37353677 | Prediagnosis reproductive factors and all-cause mortality for women with breast cancer in the breast cancer family registry |
| Q60044938 | Predicting interval and screen-detected breast cancers from mammographic density defined by different brightness thresholds |
| Q92055460 | Prediction and clinical utility of a contralateral breast cancer risk model |
| Q40216095 | Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability |
| Q36356727 | Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores |
| Q36583004 | Prediction of breast cancer risk based on profiling with common genetic variants |
| Q91832507 | Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts |
| Q41584352 | Prediction of individual genetic risk to prostate cancer using a polygenic score |
| Q36903452 | Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families |
| Q57306031 | Primary Cutaneous Ewing??s Sarcoma/Peripheral Primitive Neuroectodermal Tumors in Childhood |
| Q71571726 | Primary cutaneous Ewing's sarcoma/peripheral primitive neuroectodermal tumors in childhood. A molecular, cytogenetic, and immunohistochemical study |
| Q98186815 | Prognostic Impact of Total Plasma Cell-free DNA Concentration in Androgen Receptor Pathway Inhibitor-treated Metastatic Castration-resistant Prostate Cancer |
| Q37185723 | Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre |
| Q57265692 | Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies |
| Q55508030 | Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. |
| Q90242034 | Publisher Correction: Shared heritability and functional enrichment across six solid cancers |
| Q34540638 | RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study |
| Q36009422 | RAD51B in Familial Breast Cancer |
| Q73740231 | RESPONSE: re: HRAS1 rare minisatellite alleles and breast cancer in australian women under age forty years |
| Q114182625 | Rare germline copy number variants (CNVs) and breast cancer risk |
| Q93254299 | Rare germline genetic variants and risk of aggressive prostate cancer |
| Q28652308 | Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study |
| Q28652056 | Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers |
| Q28730692 | Rare mutations in XRCC2 increase the risk of breast cancer |
| Q35608690 | Rare variants in the ATM gene and risk of breast cancer |
| Q37373918 | Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer |
| Q28743906 | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study |
| Q36790169 | Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer |
| Q57265799 | Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer |
| Q54331515 | Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication. |
| Q90439909 | Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk |
| Q35155449 | Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia |
| Q56436732 | Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer |
| Q48018693 | Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer |
| Q64101959 | Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study |
| Q37125404 | Reliability of DNA methylation measures from dried blood spots and mononuclear cells using the HumanMethylation450k BeadArray |
| Q57305959 | Reply |
| Q45951126 | Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study. |
| Q37632099 | Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry |
| Q57269829 | Response: Table 1 |
| Q35815958 | Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci |
| Q36671526 | Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status |
| Q35750765 | Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry |
| Q50096088 | Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. |
| Q37300024 | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. |
| Q40747360 | Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. |
| Q93367394 | Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk |
| Q38717239 | Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers |
| Q34266707 | Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives |
| Q40716298 | SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer. |
| Q36545934 | SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival |
| Q35983751 | Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry |
| Q29417074 | Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study |
| Q61118451 | Shared heritability and functional enrichment across six solid cancers |
| Q64004349 | Shared heritability and functional enrichment across six solid cancers |
| Q51118570 | Should the grading of colorectal adenocarcinoma include microsatellite instability status? |
| Q43240741 | Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic density. |
| Q90271826 | Smoking and blood DNA methylation: an epigenome-wide association study and assessment of reversibility |
| Q36567692 | Socio-economic status and survival from breast cancer for young, Australian, urban women |
| Q64116219 | Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis |
| Q36405971 | Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas |
| Q36836696 | Spatiotemporally exact cDNA libraries from quail embryos: a resource for studying neural crest development and neurocristopathies. |
| Q43913511 | Stanniocalcin 2 is an estrogen-responsive gene coexpressed with the estrogen receptor in human breast cancer. |
| Q98394077 | Stochastic epigenetic mutations are associated with risk of breast cancer, lung cancer and mature B-cell neoplasms |
| Q26766390 | Strategies for Integrated Analysis of Genetic, Epigenetic, and Gene Expression Variation in Cancer: Addressing the Challenges |
| Q33593016 | Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies |
| Q33566957 | TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer |
| Q37122297 | Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers |
| Q47755879 | Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine |
| Q37025837 | Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families |
| Q38842051 | Testing for Gene-Environment Interactions Using a Prospective Family Cohort Design: Body Mass Index in Early and Later Adulthood and Risk of Breast Cancer. |
| Q33534461 | The 4q27 locus and prostate cancer risk |
| Q57250694 | The AIB1 Polyglutamine Repeat Does Not Modify Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers |
| Q24810265 | The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women |
| Q46594966 | The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis |
| Q36615665 | The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions |
| Q45973022 | The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. |
| Q43754304 | The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. |
| Q49817640 | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. |
| Q24806109 | The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer |
| Q101408546 | The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor |
| Q57265831 | The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia |
| Q91178389 | The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer |
| Q79207497 | The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years |
| Q97527458 | The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability |
| Q42371653 | The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk |
| Q57265735 | The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women |
| Q35781316 | The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients |
| Q93006972 | The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases |
| Q24797305 | The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q53335555 | The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study. |
| Q61974616 | The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations |
| Q77639218 | The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study |
| Q54269445 | The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia. |
| Q51439350 | The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. |
| Q57265642 | The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant |
| Q35476902 | The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: an example from the Breast Cancer Family Registry |
| Q43993679 | The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. |
| Q35587027 | The role of SMAD4 in early-onset colorectal cancer |
| Q36142060 | The role of genetic breast cancer susceptibility variants as prognostic factors |
| Q57265670 | The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain |
| Q46912143 | The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels |
| Q43829398 | The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. |
| Q34622507 | The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array |
| Q47196061 | The utility of DNA extracted from saliva for genome-wide molecular research platforms. |
| Q35799767 | Tools for translational epigenetic studies involving formalin-fixed paraffin-embedded human tissue: applying the Infinium HumanMethyation450 Beadchip assay to large population-based studies |
| Q40239027 | Total and beverage-specific alcohol intake and the risk of aggressive prostate cancer: a case-control study |
| Q51887153 | Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers. |
| Q114677146 | Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction |
| Q89961489 | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status |
| Q112610217 | Transcriptomic changes in peripheral blood mononuclear cells with weight loss: systematic literature review and primary data synthesis |
| Q40713486 | Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts |
| Q36924465 | Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry |
| Q37003285 | Tumour morphology predicts PALB2 germline mutation status |
| Q40080751 | Twin birth changes DNA methylation of subsequent siblings |
| Q51974477 | Two ATM variants and breast cancer risk. |
| Q92994868 | Two truncating variants in FANCC and breast cancer risk |
| Q98498260 | Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer |
| Q53551413 | Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case control study. |
| Q81144173 | Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study |
| Q57265834 | Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer |
| Q37583398 | Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk |
| Q33763777 | Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model |
| Q37971284 | Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers. |
| Q57306005 | Validation study of thelambdamodel for predicting theBRCA1orBRCA2mutation carrier status of North American Ashkenazi Jewish women |
| Q56342454 | Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility |
| Q56994850 | Variants in the Prostate-Specific Antigen (PSA) Gene and Prostate Cancer Risk, Survival, and Circulating PSA |
| Q34586198 | Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles |
| Q37414133 | rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk |
| Q56334023 | rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology |
| Q57463117 | sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data |
| Q59270783 | ‘Next-generation’ genome wide association studies |
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