Associated Papers
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Identification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report.
Lombardo V et al.
Molecular Biology Reports, 2025
Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location.
Young CC et al.
Frontiers in Oncology, 2025
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.
Hinić S et al.
Jnci Cancer Spectrum, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
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
Analyzing the mutational landscape of prostate cancer susceptibility genes through next-generation sequencing (NGS).
Riaz F et al.
American Journal of Translational Research, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.
Turner NC et al.
Npj Breast Cancer, 2023
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.
Kerr SM et al.
European Journal of Human Genetics : Ejhg, 2023
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
Chirita-Emandi A et al.
Journal of Medical Genetics, 2021
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Du C et al.
Breast Cancer Research and Treatment, 2018
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
A novel method to detect the Mexican founder mutation BRCA1 ex9‑12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan® probes.
Martínez-Treviño DA et al.
Molecular Medicine Reports, 2018
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Seo A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL et al.
European Journal of Medical Genetics, 2018
BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.
Bondavalli D et al.
Oncology Letters, 2018
BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
Maxwell KN et al.
Nature Communications, 2017
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Rebbeck TR et al.
Breast Cancer Research : Bcr, 2016
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
Seifert BA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Vallée MP et al.
Human Mutation, 2016
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Couch FJ et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
Domchek SM et al.
Cancer Discovery, 2013
BRCA1: a missing link in the Fanconi anemia/BRCA pathway.
D'Andrea AD
Cancer Discovery, 2013