human | Q5 |
P496 | ORCID iD | 0000-0002-2449-0521 |
P1153 | Scopus author ID | 57202063768 |
P106 | occupation | researcher | Q1650915 |
P21 | sex or gender | female | Q6581072 |
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 |
Q37169873 | 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium |
Q35755874 | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer |
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 |
Q112642481 | A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development |
Q55043120 | A recurrent mutation in PALB2 in Finnish cancer families. |
Q57305942 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer |
Q33337514 | Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families |
Q35134888 | Assessment of targeted and non-targeted responses in cells deficient in ATM function following exposure to low and high dose X-rays |
Q45979098 | Association analysis identifies 65 new breast cancer risk loci. |
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 |
Q35022847 | Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies |
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 |
Q57056093 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis |
Q90824237 | BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells |
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 |
Q46115524 | Body mass index and breast cancer survival: a Mendelian randomization analysis |
Q100457582 | Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk |
Q35940158 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. |
Q37406868 | Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions |
Q57305977 | Breast-Cancer Risk in Families With Mutations in PALB2 |
Q34148873 | Breast-cancer risk in families with mutations in PALB2 |
Q92005489 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families |
Q33677756 | Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility |
Q35891162 | Common breast cancer susceptibility loci are associated with triple-negative breast cancer |
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 |
Q31082788 | Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
Q34181322 | Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade 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) |
Q91106621 | Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition |
Q99573162 | Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition |
Q34938728 | Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families |
Q51773668 | Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. |
Q35653910 | Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk |
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 |
Q37394076 | FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome |
Q42683589 | FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population |
Q37594336 | FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium |
Q37236216 | Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). |
Q35524465 | Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. |
Q92480972 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes |
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. |
Q57305889 | Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer |
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 |
Q57305903 | Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility |
Q35925620 | Genetic predisposition to ductal carcinoma in situ of the breast |
Q35151684 | Genetic predisposition to in situ and invasive lobular carcinoma of the breast |
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 |
Q30000080 | Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent |
Q36842233 | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
Q35996692 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer |
Q24622610 | Genome-wide association studies identify four ER negative-specific breast cancer risk loci |
Q64040390 | Genome-wide association study of germline variants and breast cancer-specific mortality |
Q34173446 | Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families |
Q61969689 | Germline alterations in the CLSPN gene in breast cancer families |
Q54473072 | Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations. |
Q36276540 | Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization |
Q37305285 | Heterozygous mutations in PALB2 cause DNA replication and damage response defects |
Q35102646 | Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk |
Q36859142 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer |
Q36014067 | Identification of novel genetic markers of breast cancer survival |
Q46103372 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer |
Q28506416 | Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice |
Q114184688 | Incorporating progesterone receptor expression into the PREDICT breast prognostic model |
Q35104068 | Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer |
Q41581759 | KEAP1 Genetic Polymorphisms Associate with Breast Cancer Risk and Survival Outcomes |
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 |
Q34497352 | MicroRNA related polymorphisms and breast cancer risk |
Q36897003 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer |
Q33520087 | Mutation analysis of the AATF gene in breast cancer families |
Q59238320 | Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families |
Q33824592 | Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families |
Q33966572 | Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families |
Q30374367 | No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. |
Q28207250 | No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families |
Q37079859 | No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing |
Q36927115 | Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies |
Q90031981 | Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders |
Q28584533 | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS |
Q47143943 | PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. |
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 |
Q37307937 | Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium |
Q27851443 | Penetrance analysis of the PALB2 c.1592delT founder mutation |
Q62583133 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes |
Q36583004 | Prediction of breast cancer risk based on profiling with common genetic variants |
Q89143670 | Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders |
Q55508030 | Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. |
Q34318239 | Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network |
Q34695260 | Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer |
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 |
Q45951126 | Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study. |
Q36545934 | SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival |
Q61969664 | Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family |
Q54423137 | Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families. |
Q35906993 | Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility |
Q49817640 | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. |
Q36917100 | The UGT1A6_19_GG genotype is a breast cancer risk factor |
Q36142060 | The role of genetic breast cancer susceptibility variants as prognostic factors |
Q89961489 | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status |
Q91951419 | Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly |
Q37414133 | rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk |
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