Article
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Genome medicine - 3 Dec 2021
Fierheller Caitlin T, Guitton-Sert Laure, Alenezi Wejdan M, Revil Timothée, Oros Kathleen K, Gao Yuandi, Bedard Karine, Arcand Suzanna L, Serruya Corinne, Behl Supriya, Meunier Liliane, Fleury Hubert, Fewings Eleanor, Subramanian Deepak N, Nadaf Javad, Bruce Jeffrey P, Bell Rachel, Provencher Diane, Foulkes William D, El Haffaf Zaki, Mes-Masson Anne-Marie, Majewski Jacek, Pugh Trevor J, Tischkowitz Marc, James Paul A, Campbell Ian G, Greenwood Celia M T, Ragoussis Jiannis, Masson Jean-Yves, Tonin Patricia N
Abstract excerpt
BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes. METHODS: Whole exome sequencing was used to identify rare variants in HR genes in a BRCA1 and BRCA2 pathogenic variant negative OC family of French...
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