| human | Q5 |
| P496 | ORCID iD | 0000-0002-6034-7562 |
| P1053 | ResearcherID | E-7132-2017 |
| P1153 | Scopus author ID | 35763938200 |
| P108 | employer | National Cancer Institute | Q3747179 |
| P106 | occupation | researcher | Q1650915 |
| Q36016386 | 11q13 is a susceptibility locus for hormone receptor positive breast cancer |
| Q35871567 | 19p13.1 is a triple-negative-specific breast cancer susceptibility locus |
| 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. |
| Q24295528 | A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6 |
| Q46533348 | A comparison of bilateral breast cancers in BRCA carriers |
| Q28386783 | A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma |
| 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 |
| Q92711687 | A network analysis to identify mediators of germline-driven differences in breast cancer prognosis |
| Q47233826 | A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy |
| Q61771629 | A randomized controlled trial of diet and physical activity in BRCA mutation carriers |
| Q53355540 | A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project. |
| Q38662947 | Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers |
| Q53238843 | Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study. |
| Q35618307 | An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers |
| Q58813314 | An unusual BRCA2 allele carrying two splice site mutations |
| Q37193409 | Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1 |
| Q35242849 | Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers |
| Q45979098 | Association analysis identifies 65 new breast cancer risk loci. |
| Q91271723 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness |
| Q51102259 | Association of SULT1A1 Arg²¹³His polymorphism with male breast cancer risk: results from a multicenter study in Italy. |
| 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. |
| Q37268494 | Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry |
| Q44567135 | Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy. |
| Q35957703 | Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer |
| 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 |
| Q57056093 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis |
| Q61970278 | Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers |
| Q24531993 | Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies |
| Q62712290 | BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding |
| Q61970272 | BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy |
| Q37002955 | BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers |
| Q54677732 | Bilateral preaxial polydactyly in a WAGR syndrome patient. |
| Q46115524 | Body mass index and breast cancer survival: a Mendelian randomization analysis |
| Q114182645 | Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores |
| Q43073201 | Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies |
| 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 |
| Q92005489 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families |
| Q34963894 | Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q52872042 | Cardio-Oncology: The Carney Complex Type I. |
| Q71308087 | Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation |
| Q35091400 | Characterization of an Italian founder mutation in the RING-finger domain of BRCA1. |
| 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) |
| Q35447780 | Classification of BRCA1 missense variants of unknown clinical significance |
| Q57419705 | Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy |
| Q61314849 | Clinical genetic testing for familial melanoma in Italy: A cooperative study |
| Q64083597 | Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature |
| Q36839777 | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| Q34394665 | Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction |
| 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. |
| Q24655824 | Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q33742096 | Common genetic variants and modification of penetrance of BRCA2-associated breast cancer |
| Q35794653 | Common germline polymorphisms associated with breast cancer-specific survival |
| 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 |
| Q34213403 | Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers |
| Q34603197 | Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations |
| 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 |
| Q36181243 | Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
| 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) |
| Q59377158 | Cutaneous Melanoma in Childhood and Adolescence Shows Frequent Loss of INK4A and Gain of KIT |
| Q46713406 | Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases |
| Q21144874 | DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q34116553 | Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis |
| Q58813401 | Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation |
| Q34039438 | Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers |
| Q51016187 | Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability. |
| Q33614244 | Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers |
| Q35009015 | Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases |
| Q37481884 | Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). |
| Q34806825 | Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. |
| Q35653910 | Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk |
| Q57881796 | Evidence for a link between TNFRSF11A and risk of breast cancer |
| Q58813316 | Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases |
| Q33863235 | Exploring the link between MORF4L1 and risk of breast cancer |
| Q35999309 | FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor |
| 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). |
| Q36087170 | Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers |
| 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 |
| 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 |
| Q34572133 | First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report |
| Q44415170 | Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics |
| 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 |
| Q64244649 | GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes |
| Q35022825 | Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers |
| 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 |
| Q93270780 | Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility |
| Q95329367 | Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses |
| 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 |
| Q54788111 | Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations. |
| Q96432094 | Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk |
| Q54562204 | Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. |
| Q42856743 | Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2 |
| Q36276540 | Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization |
| Q36916140 | Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers |
| Q35102646 | Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk |
| Q30252854 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer |
| Q36720814 | Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk |
| 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 |
| 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 |
| Q36603837 | Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature |
| Q48170008 | Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations |
| Q37309198 | Indications for breast magnetic resonance imaging. Consensus document "Attualità in senologia", Florence 2007. |
| Q38610326 | Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility |
| Q46569831 | Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study |
| Q37410472 | Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women |
| Q34116505 | International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers |
| Q34081324 | Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer |
| Q92313654 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification |
| Q29416989 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk |
| Q31043651 | Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. |
| Q61970274 | Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers |
| Q36716114 | Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results |
| Q51626990 | Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results. |
| Q36897003 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer |
| Q55032008 | Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. |
| Q35984974 | Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study |
| Q49024646 | Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations. |
| Q61974522 | Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations |
| Q61974517 | New Trends of MRI in Breast Cancer Diagnosis |
| Q54396803 | No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women. |
| Q37079859 | No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing |
| Q41507618 | Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy |
| Q36280191 | Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers |
| Q61970269 | PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer |
| Q60315437 | PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo |
| 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) |
| 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 |
| 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 |
| Q46808117 | Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group |
| Q61974532 | Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia |
| Q36785963 | Rapid progression of prostate cancer in men with a BRCA2 mutation |
| Q42672216 | Rare variants in XRCC2 as breast cancer susceptibility alleles |
| Q54533098 | Re: Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked 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. |
| Q36281144 | Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies |
| Q53314159 | SNPs in ultraconserved elements and familial breast cancer risk. |
| Q31049299 | Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. |
| Q60627342 | Serum levels of IGF-I and BRCA penetrance: a case control study in breast cancer families |
| Q33782791 | Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility |
| Q50186201 | Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition. |
| 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. |
| Q49817640 | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. |
| Q51551407 | The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. |
| Q44955073 | The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy. |
| Q91178389 | The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer |
| Q60315446 | The SNP rs895819 in miR-27a is not associated with familial breast cancer risk in Italians |
| Q93006972 | The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases |
| Q37401496 | The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q37613551 | The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation |
| Q36898423 | The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study |
| Q55422999 | The neutrophil-to-lymphocyte and platelet-to-lymphocyte ratios predict efficacy of platinum-based chemotherapy in patients with metastatic triple negative breast cancer. |
| Q60315457 | The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases |
| Q48154043 | The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers |
| Q57265670 | The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain |
| Q89961489 | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status |
| Q40390131 | Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study |
| Q58556556 | Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction |
| Q39544500 | Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations |
| Q92994868 | Two truncating variants in FANCC and breast cancer risk |
| Q43425619 | What is specific in hereditary breast cancer? High T2 signal intensity as a new semeiotic pattern? |
| Q34586198 | Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles |
| Q40573572 | Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene. |
| Q51296900 | X chromosome inactivation pattern in BRCA gene mutation carriers. |
| Q37521015 | miR-342 regulates BRCA1 expression through modulation of ID4 in breast cancer |
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