A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Abstract 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 sequencin...

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Autores principales: Caitlin T. Fierheller, Laure Guitton-Sert, Wejdan M. Alenezi, Timothée Revil, Kathleen K. Oros, Yuandi Gao, Karine Bedard, Suzanna L. Arcand, Corinne Serruya, Supriya Behl, Liliane Meunier, Hubert Fleury, Eleanor Fewings, Deepak N. Subramanian, Javad Nadaf, Jeffrey P. Bruce, Rachel Bell, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Jacek Majewski, Trevor J. Pugh, Marc Tischkowitz, Paul A. James, Ian G. Campbell, Celia M. T. Greenwood, Jiannis Ragoussis, Jean-Yves Masson, Patricia N. Tonin
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
FANCI
Ovarian cancer
Cancer-predisposing gene
Whole exome sequencing
Tissue microarray
Protein expression
Medicine
R
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/52b67832911d434ca9c1266c56a3622d
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