Associated Papers
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L et al.
Journal of the National Cancer Institute, 2024
The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.
Makhetha M et al.
Journal of Genetic Counseling, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
Van der Merwe NC et al.
Frontiers in Genetics, 2022
Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer.
Slootbeek PHJ et al.
International Journal of Cancer, 2021
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L 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
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 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
The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
Mandelker D et al.
Jnci Cancer Spectrum, 2019
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands.
Vos JR et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014
Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
Bayraktar S et al.
Cancer, 2012
Earlier age of onset of BRCA mutation-related cancers in subsequent generations.
Litton JK et al.
Cancer, 2012
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
Ameziane N et al.
Anemia, 2012
Cross-species comparison of aCGH data from mouse and human BRCA1- and BRCA2-mutated breast cancers.
Holstege H et al.
Bmc Cancer, 2010
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
Mohammadi L et al.
Bmc Cancer, 2009
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006
A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.
Wárlám-Rodenhuis CC et al.
European Journal of Cancer (oxford, England : 1990), 2005
Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.
Unknown Author
Lancet (london, England), 1997