Journal article
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
CT Fierheller, L Guitton-Sert, WM Alenezi, T Revil, KK Oros, Y Gao, K Bedard, SL Arcand, C Serruya, S Behl, L Meunier, H Fleury, E Fewings, DN Subramanian, J Nadaf, JP Bruce, R Bell, D Provencher, WD Foulkes, Z El Haffaf Show all
Genome Medicine | Published : 2021
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 sequencing was used to identify rare variants in HR genes in a BRCA1 and BRCA2 pathogenic variant negative OC family of French Canadian (FC) ancestry, a population exhibiting genetic drift. OC cases and cancer-free individuals from FC and non-FC populations were investigated for carrier frequency of FANCI c.1813C>T; p.L605F, the top-ranking candidate. Gene and protein expression were investigated in cancer cell l..
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Awarded by Taibah University
Funding Acknowledgements
C.T.F. was supported by The Research Institute of the McGill University Health Centre Studentship (RI-MUHC) Award and Ovarian Cancer Canada Trainee Travel (Research) Award. W.M.A. is supported by a Taibah University Scholarship Award and The Ministry of Higher Education, Saudi Arabia. H.F. was supported in part by the Michele St-Pierre and Canderel fellowships of the Institut du cancer de Montreal. L.G.-S. and Y.G. are supported by a Fonds de recherche du Quebec-Sante (FRQS) Fellowship and Scholarship Awards, respectively. J.-Y.M. is a Canada Research Chair in DNA repair and cancer therapeutics. The RI-MUHC and CRCHUM receive support from the FRQS. Research was supported by the following: The Canadian Institute for Health Research (CIHR) operating grants [PCC-156736 to P.N.T., C.M. T.G., J.R.; PJT-156124 to P.N. T., J.R.]; Cancer Research Society and Ovarian Cancer Canada partnership grant [21123 to P.N.T.]; Department of Medicine, McGill University Grant to P.N. T.; FRQS and Quebec Breast Cancer Foundation network grants to P. N.T.; Compute Canada resource allocation project wst-164 and Genome Canada Genome Technology Platform award to J.R.; and CIHR foundation grant to J.-Y.M. Ovarian tumour banking was supported by the Banque de tissus et de donnees of the Reseau de recherche sur le cancer of the FRQS affiliated with the Canadian Tumor Repository Network (CTRNet).