Citation: Alenezi, W.M.; Milano, L.;
Fierheller, C.T.; Serruya, C.; Revil, T.;
Oros, K.K.; Behl, S.; Arcand, S.L.;
Nayar, P.; Spiegelman, D.; et al. The
Genetic and Molecular Analyses of
RAD51C and RAD51D Identifies Rare
Variants Implicated in Hereditary
Ovarian Cancer from a Genetically
Unique Population. Cancers 2022, 14,
2251. https://doi.org/10.3390/
cancers14092251
Academic Editors: Melissa Southey,
Tu Nguyen-Dumont and
Ingrid Winship
Received: 18 March 2022
Accepted: 20 April 2022
Published: 30 April 2022
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cancers
Article
The Genetic and Molecular Analyses of RAD51C and RAD51D
Identifies Rare Variants Implicated in Hereditary Ovarian
Cancer from a Genetically Unique Population
Wejdan M. Alenezi
1,2,3
, Larissa Milano
4,5
, Caitlin T. Fierheller
1,2
, Corinne Serruya
2
, Timothée Revil
1,6
,
Kathleen K. Oros
7
, Supriya Behl
1,2
, Suzanna L. Arcand
2
, Porangana Nayar
2,8
, Dan Spiegelman
1,9
,
Simon Gravel
1,6
, Anne-Marie Mes-Masson
10,11
, Diane Provencher
10,12
, William D. Foulkes
1,2,7,13,14,15
,
Zaki El Haffaf
10,16
, Guy Rouleau
1,9
, Luigi Bouchard
17,18,19
, Celia M. T. Greenwood
1,7,15,20
,
Jean-Yves Masson
4,5
, Jiannis Ragoussis
1,6
and Patricia N. Tonin
1,2,14,
*
1
Department of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada;
wagdan.alenizy@mail.mcgill.ca (W.M.A.); caitlin.fierheller@mail.mcgill.ca (C.T.F.);
timothee.revil@mcgill.ca (T.R.); supriya.behl@mail.mcgill.ca (S.B.); dan.spiegelman@mcgill.ca (D.S.);
simon.gravel@mcgill.ca (S.G.); william.foulkes@mcgill.ca (W.D.F.); guy.rouleau@mcgill.ca (G.R.);
celia.greenwood@mcgill.ca (C.M.T.G.); ioannis.ragoussis@mcgill.ca (J.R.)
2
Cancer Research Program, Centre for Translational Biology, The Research Institute of McGill University
Health Centre, Montreal, QC H4A3J1, Canada; corinne.serruya@affiliate.mcgill.ca (C.S.);
suzanna.arcand@mail.mcgill.ca (S.L.A.); porangana.nayar@mail.mcgill.ca (P.N.)
3
Department of Medical Laboratory Technology, Taibah University, Medina 42353, Saudi Arabia
4
Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University,
Quebec City, QC G1V0A6, Canada; larissa.milano-de-souza@crchudequebec.ulaval.ca (L.M.);
jean-yves.masson@crchudequebec.ulaval.ca (J.-Y.M.)
5
Genome Stability Laboratory, Centre de Recherche du Centre Hospitalier de l’Université de Québec,
HDQ Pavilion, Oncology Axis, Quebec City, QC G1R2J6, Canada
6
McGill Genome Centre, McGill University, Montreal, QC H3A0G1, Canada
7
Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T1E2, Canada;
kathleen.klein@mail.mcgill.ca
8
Institute of Parasitology, McGill University, Montreal, QC H9X3V9, Canada
9
Montreal Neurological Institute, McGill University, Montreal, QC H3A2B4, Canada
10
Institut du Cancer de Montréal, Centre de Recherche du Centre Hospitalier de l’Université de Montréal,
Montreal, QC H2X0A9, Canada; anne-marie.mes-masson@umontreal.ca (A.-M.M.-M.);
diane.provencher.med@ssss.gouv.qc.ca (D.P.); ahmed.zaki.anwar.el.haffaf.med@ssss.gouv.qc.ca (Z.E.H.)
11
Département de Médecine, Université de Montréal, Montreal, QC H3T1J4, Canada
12
Division of Gynecologic Oncology, Université de Montréal, Montreal, QC H4A3J1, Canada
13
Department of Medical Genetics, McGill University Health Centre, Montreal, QC H4A3J1, Canada
14
Department of Medicine, McGill University, Montreal, QC H3G2M1, Canada
15
Gerald Bronfman Department of Oncology, McGill University, Montreal, QC H3A1G5, Canada
16
Service de Médecine Geénique, Centre Hospitalier de l’Université de Montréal,
Montreal, QC H2X0A9, Canada
17
Department of Biochemistry and Functional Genomics, Université de Sherbrooke,
Sherbrooke, QC J1K2R1, Canada; luigi.bouchard@usherbrooke.ca
18
Department of Medical Biology, Centres Intégrés Universitaires de Santé et de Services Sociaux du
Saguenay-Lac-Saint-Jean Hôpital Universitaire de Chicoutimi, Saguenay, QC G7H7K9, Canada
19
Centre de Recherche du Centre Hospitalier l’Université de Sherbrooke, Sherbrooke, QC J1H5N4, Canada
20
Department of Epidemiology, Biostatistics and Occupational Health, McGill University,
Montreal, QC H3A1A2, Canada
* Correspondence: patricia.tonin@mcgill.ca; Tel.: +1-514-934-1934 (ext. 44069)
Simple Summary: We have investigated RAD51C and RAD51D, hereditary ovarian cancer risk genes,
in French Canadians of Quebec, Canada. This population of Western European origins exhibits a
unique genetic landscape as shown by the frequency of carriers of specific rare pathogenic variants. As
studying French Canadians could facilitate the identification and interpretation of clinically relevant
variants, we performed genetic analyses of RAD51C and RAD51D in this population comprised
of cases with a family history of ovarian cancer or those who developed it at a young age. We
identified candidate variants and then investigated them in other French Canadian study groups.
Cancers 2022, 14, 2251. https://doi.org/10.3390/cancers14092251 https://www.mdpi.com/journal/cancers