Associated Papers
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf
Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations.
Thompson JF et al.
Genome Research, 2012
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
Machackova E et al.
Bmc Cancer, 2008
Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis.
Barker DF
Human Mutation, 2000
PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations.
Hennessy LK et al.
Clinical Chemistry, 1998
A complete protein truncation test for BRCA1 and BRCA2.
Garvin AM
European Journal of Human Genetics : Ejhg, 0
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