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

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 u...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642877/
https://www.ncbi.nlm.nih.gov/pubmed/34861889
http://dx.doi.org/10.1186/s13073-021-00998-5

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