Article
The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.
International journal of molecular sciences - 20 Jan 2026
Alenezi Wejdan M, Milano Larissa, Fierheller Caitlin T, Serruya Corinne, Revil Timothée, Oros Kathleen K, Bruce Jeffrey P, Spiegelman Dan, Pugh Trevor, Mes-Masson Anne-Marie, Provencher Diane, Foulkes William D, El Haffaf Zaki, Rouleau Guy, Bouchard Luigi, Greenwood Celia M T, Ragoussis Jiannis, Masson Jean-Yves, Tonin Patricia N
Abstract excerpt
Five rare variants in BRIP1/FANCJ, initially identified in ovarian cancer (OC) or breast cancer (BC) 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...
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