Associated Papers
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › BRCA2
Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
Prakash R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36099300 (PubMed )
Supplement: pnas.2202727119.sapp.pdf
Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
Aljarf R et al.
Scientific Reports, 2022
35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1
Detection of actionable mutations in archived cytological bile specimens.
Ohyama H et al.
Journal of Hepato-biliary-pancreatic Sciences, 2021
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
Torres D et al.
Scientific Reports, 2017
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.
Soegaard M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008
Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.
Weber J et al.
Electrophoresis, 2006
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).
Infante M et al.
Journal of Human Genetics, 2006
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O et al.
Human Mutation, 2003
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.
de Sanjosé S et al.
International Journal of Cancer, 2003
Low incidence of BRCA2 mutations in breast carcinoma and other cancers.
Teng DH et al.
Nature Genetics, 1996
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