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Article

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Genes - 20 Jan 2023

Fierheller Caitlin T, Alenezi Wejdan M, Serruya Corinne, Revil Timothée, Amuzu Setor, Bedard Karine, Subramanian Deepak N, Fewings Eleanor, Bruce Jeffrey P, Prokopec Stephenie, Bouchard Luigi, Provencher Diane, Foulkes William D, El Haffaf Zaki, Mes-Masson Anne-Marie, Tischkowitz Marc, Campbell Ian G, Pugh Trevor J, Greenwood Celia M T, Ragoussis Jiannis, Tonin Patricia N

Abstract excerpt

FANCI was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of FANCI c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic characteristics of FANCI, as they have not been described in the context of cancer. We first investigated the germline genetic landscape of two sisters with OC from the discovery FANCI c.1813C>T;...

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Identifiers

PMID: 36833203
DOI: 10.3390/genes14020277
PMCID: PMC9956348

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