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• W2169076357 abstract "BRCA1 and BRCA2 screening in women at high-risk of breast cancer results in the identification of both unambiguously defined deleterious mutations and sequence variants of unknown clinical significance (VUS). We examined a population-based sample of young women with contralateral breast cancer (CBC, n=705) or unilateral breast cancer (UBC, n=1398). We identified 470 unique sequence variants, of which 113 were deleterious mutations. The remaining 357 VUS comprised 185 unique missense changes, 60% were observed only once, while 3% occurred with a frequency of >10%. Deleterious mutations occurred three times more often in women with CBC (15.3%) than in women with UBC (5.2%), whereas combined, VUS were observed in similar frequencies in women with CBC and UBC. A protein alignment algorithm defined 16 rare VUS, occurring at highly conserved residues and/or conferring a considerable biochemical difference, the majority located in the BRCA2 DNA-binding domain. We confirm a multiplicity of BRCA1 and BRCA2 VUS that occur at a wide range of allele frequencies. Although some VUS inflict chemical differences at conserved residues, suggesting a deleterious effect, the majority are not associated with an increased risk of CBC. © 2010 Wiley-Liss, Inc." @default.
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• W2169076357 date "2010-03-01" @default.
• W2169076357 modified "2023-09-30" @default.
• W2169076357 title "Characterization of<i>BRCA1</i>and<i>BRCA2</i>deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study" @default.
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• W2169076357 doi "https://doi.org/10.1002/humu.21202" @default.
• W2169076357 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2928257" @default.
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