Associated Papers
Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.
Buckley KH et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.
Silverman IM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.
Hutchcraft ML et al.
Jco Precision Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Specialty Care and Counselling about Hereditary Cancer Risk Improves Adherence to Cancer Screening and Prevention in Newfoundland and Labrador Patients with BRCA1/2 Pathogenic Variants: A Population-Based Retrospective Cohort Study.
Roebothan A et al.
Current Oncology (toronto, Ont.), 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Mikaeel RR et al.
Genes, Chromosomes & Cancer, 2022
Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
Fan X et al.
Jnci Cancer Spectrum, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Lattimore V et al.
Breast Cancer Research and Treatment, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome.
Hollis RL et al.
Nature Communications, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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).
Silvestri V et al.
Jama Oncology, 2020
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors.
Vidula N et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
Ademuyiwa FO et al.
Breast Cancer Research and Treatment, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.
Lang SH et al.
International Journal of Oncology, 2019
Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
Kemp Z et al.
Jama Network Open, 2019
Genomic Analysis of Three Metastatic Prostate Cancer Patients with Exceptional Responses to Carboplatin Indicating Different Types of DNA Repair Deficiency.
Zafeiriou Z et al.
European Urology, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
Rummel SK et al.
Breast Cancer Research and Treatment, 2017
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.
Na R et al.
European Urology, 2017
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Pritzlaff M et al.
Breast Cancer Research and Treatment, 2017
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
Leongamornlert D et al.
British Journal of Cancer, 2014