Evidence map›Paper›PMID 35565380›Full record

ArticleCancers2022

The Genetic and Molecular Analyses of

Wejdan M Alenezi, Larissa Milano, Caitlin T Fierheller, Corinne Serruya, Timothée Revil, Kathleen K Oros, Supriya Behl, Suzanna L Arcand, Porangana Nayar, Dan Spiegelman and 11 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026
    Article
  2. High-throughput mapping of 6,888bioRxiv : the preprint server for biology · 2026
    Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 8 institutions in 2 countries.

Wejdan M AleneziDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.ORCID 0000-0002-2882-7267
Larissa MilanoDepartment of Molecular Biology, Medical Biochemistry and Pathology, Laval University, Quebec City, QC G1V0A6, Canada.ORCID 0000-0003-0834-4249
Caitlin T FierhellerDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.
Corinne SerruyaCancer Research Program, Centre for Translational Biology, The Research Institute of McGill University Health Centre, Montreal, QC H4A3J1, Canada.
Timothée RevilDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.
Kathleen K OrosLady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T1E2, Canada.
Supriya BehlDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.
Suzanna L ArcandCancer Research Program, Centre for Translational Biology, The Research Institute of McGill University Health Centre, Montreal, QC H4A3J1, Canada.
Porangana NayarCancer Research Program, Centre for Translational Biology, The Research Institute of McGill University Health Centre, Montreal, QC H4A3J1, Canada.
Dan SpiegelmanDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.
Simon GravelDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.ORCID 0000-0002-9183-964X
Anne-Marie Mes-MassonInstitut du Cancer de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montreal, QC H2X0A9, Canada.ORCID 0000-0002-6498-266X
Diane ProvencherInstitut du Cancer de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montreal, QC H2X0A9, Canada.
William D FoulkesDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.ORCID 0000-0001-7427-4651
Zaki El HaffafInstitut du Cancer de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montreal, QC H2X0A9, Canada.
Guy RouleauDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.
Luigi BouchardDepartment of Biochemistry and Functional Genomics, Université de Sherbrooke, Sherbrooke, QC J1K2R1, Canada.
Celia M T GreenwoodDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.ORCID 0000-0002-2427-5696
Jean-Yves MassonDepartment of Molecular Biology, Medical Biochemistry and Pathology, Laval University, Quebec City, QC G1V0A6, Canada.ORCID 0000-0002-4403-7169
Jiannis RagoussisDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.ORCID 0000-0002-8515-0934
Patricia N ToninDepartment of Human Genetics, McGill University, Montreal, QC H3A0C7, Canada.
McGill University Health Centre · CACentre Hospitalier de l’Université de Montréal · CAMcGill Genome Centre · CACentre hospitalier universitaire de Québec · CAJewish General Hospital · CAMontreal Neurological Institute and Hospital · CATaibah University · SAUniversité de Sherbrooke · CA

Funding

CIHR PJT-156124
6 · The paper itself

Abstract

To identify candidate variants in RAD51C and RAD51D ovarian cancer (OC) predisposing genes by investigating French Canadians (FC) exhibiting unique genetic architecture. Candidates were identified by whole exome sequencing analysis of 17 OC families and 53 early-onset OC cases. Carrier frequencies were determined by the genetic analysis of 100 OC or HBOC families, 438 sporadic OC cases and 1025 controls. Variants of unknown function were assayed for their biological impact and/or cellular sensitivity to olaparib. RAD51C c.414G>C;p.Leu138Phe and c.705G>T;p.Lys235Asn and RAD51D c.137C>G;p.Ser46Cys, c.620C>T;p.Ser207Leu and c.694C>T;p.Arg232Ter were identified in 17.6% of families and 11.3% of early-onset cases. The highest carrier frequency was observed in OC families (1/44, 2.3%) and sporadic cases (15/438, 3.4%) harbouring RAD51D c.620C>T versus controls (1/1025, 0.1%). Carriers of c.620C>T (n = 7), c.705G>T (n = 2) and c.137C>G (n = 1) were identified in another 538 FC OC cases. RAD51C c.705G>T affected splicing by skipping exon four, while RAD51D p.Ser46Cys affected protein stability and conferred olaparib sensitivity. Genetic and functional assays implicate RAD51C c.705G>T and RAD51D c.137C>G as likely pathogenic variants in OC. The high carrier frequency of RAD51D c.620C>T in FC OC cases validates previous findings. Our findings further support the role of RAD51C and RAD51D in hereditary OC.

Indexed as

French Canadiangenetic driftovarian cancer predisposing genesRAD51CRAD51D

Identifiers

PMID35565380
PMCPMC9104874
OpenAlexW4225145422

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.