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• W4383874637 abstract "ABSTRACT Five rare variants in BRIP1/FANCJ , initially reported in ovarian (OC) or breast (BC) cancer cases by the adult hereditary cancer clinics, were investigated for their candidacy as clinically relevant variants. These variants were investigated genetically in a population exhibiting genetic drift and molecularly assayed for biological impact. Using in silico tools, population-based genetic databases and other resources, three of the five reported BRIP1 variants were likely to be damaging: c.797C>T; p.Thr266Met, c.2087C>T; p.Pro696Leu and c.2990_2993delCAAA; p.Thr997ArgfsTer61. The carrier frequencies ranged from 0-0.7% in ancestry defined cancer groups comprised of 47 OC families, 49 hereditary breast and ovarian cancer syndrome families, 142 hereditary breast cancer syndrome families, 435 sporadic OC cases and 563 sporadic BC cases and 0-0.2% in 1025 population-matched controls. Multiple carriers of the same variants were identified in additional population-matched cancer cases. Of the five reported BRIP1 variants, p.Thr266Met, p.Pro696Leu and p.Thr997ArgfsTer61, which were predicted to be damaging, conferred cellular sensitivity to mitomycin C and cisplatin unlike p.Ser139Ala and p.Ala406Ser. Collectively, our investigation implicates BRIP1 c.797C>T; p.Thr266Met, c.2087C>T; p.Pro696Leu and p.Thr997ArgfsTer61 as deleterious variants in OC and BC." @default.
• W4383874637 created "2023-07-12" @default.
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• W4383874637 date "2023-07-11" @default.
• W4383874637 modified "2023-10-18" @default.
• W4383874637 title "Genetic and molecular analyses of candidate germline<i>BRIP1/FANCJ</i>variants implicated in breast and ovarian cancer" @default.
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