2 research outputs found
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
- Author
- Adenis Claude
- Andrieu Nadine, N.
- Audebertâbellanger SĂ©verine
- Barjhoux Laure
- Baulard CĂ©line
- Beauvallet Juana
- Berthet Pascaline
- Bignon Yvesâjean
- Bihoreau MarieâthĂ©rĂšse
- Boland Anne
- Bonadona Valerie, V.
- Buecher Bruno
- Caron Olivier
- Cavaciuti Eve
- Chiesa Jean
- Cohenâhaguenauer Odile
- Coignard Juliette
- Colas Chrystelle
- Coupier Isabelle
- Damiola Francesca
- Deleuze Jeanâfrançois
- Delnatte Capucine
- Dondon Marieâgabrielle
- Dreyfus HĂ©lĂšne
- Eisinger Francois
- Eonâmarchais SĂ©verine
- Faivre Laurence
- Fajac Anne
- Fertâferrer Sandra
- Floquet Anne
- Fricker Jeanâpierre
- Frébourg Thierry
- Gauthierâvillars Marion
- Gesta Paul
- Girard Elodie
- Giraud Sophie
- Gladieff Laurence
- Goidin Didier
- Lasset Christine, C.
- Le Gal Dorothée
- Lejeuneâdumoulin Sophie
- Leroux Dominique
- Lesueur Fabienne
- Limacher Jeanâmarc
- Longy Michel
- Lonjou Christine
- Lortholary Alain
- Luporsi Elisabeth
- Marcou Morgane
- Maugard Christine
- Mazoyer Sylvie
- Mebirouk Noura
- Meyer Vincent
- Mortemousque Isabelle
- NoguĂšs Catherine
- Olaso Robert, E
- Penet Clotilde
- Pujol Pascal
- Renault Anneâlaure
- Servant Nicolas
- Soubrier Florent
- Stoppaâlyonnet Dominique
- Tinat Julie
- Venatâbouvet Laurence
- Publication venue
- Wiley
- Publication date
- 11/01/2019
- Field of study
This article is dedicated to the memory of Olga M. Sinilnikova who died prematurely on June 30, 2014. Olga participated decisively in structuring research around hereditary predisposition to BC and in leading the GENESIS study with Nadine Andrieu and Dominique Stoppa-Lyonnet. She also contributed to the design of the GENESIS-NGS project.International audiencePathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. Because of cost-effectiveness, multigene panel testing is often performed even if the clinical utility of testing most of the genes remains questionable. The purpose of our study was to assess the contribution of rare, deleterious-predicted variants in DNA repair genes in familial breast cancer (BC) in a well-characterized and homogeneous population. We analyzed 113 DNA repair genes selected from either an exome sequencing or a candidate gene approach in the GENESIS study, which includes familial BC cases with no BRCA1 or BRCA2 mutation and having a sister with BC (N = 1,207), and general population controls (N = 1,199). Sequencing data were filtered for rare loss-of-function variants (LoF) and likely deleterious missense variants (MV). We confirmed associations between LoF and MV in PALB2, ATM and CHEK2 and BC occurrence. We also identified for the first time associations between FANCI, MAST1, POLH and RTEL1 and BC susceptibility. Unlike other associated genes, carriers of an ATM LoF had a significantly higher risk of developing BC than carriers of an ATM MV (ORLoF = 17.4 vs. ORMV = 1.6; p Het = 0.002). Hence, our approach allowed us to specify BC relative risks associated with deleterious-predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility. We also highlight that different types of variants within the same gene can lead to different risk estimates
5th International Symposium on Focused Ultrasound
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- Abraham Christopher
- Acosta Camilo
- Acosta Camilo
- Acosta Camilo
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- Adams Matthew
- Adams Matthew
- Adema Gosse
- Agrawal Punit
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- Aleman Dionne
- Alexander Phillip
- Alkins Ryan
- Allen Steven
- Allen Steven
- Allen Steven
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- Almquist Scott
- Alnazeer Moez
- Altman Michael
- Aly Amirah
- Amaral Joao G
- Amrahli Maral
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- Andarawewa Kumari
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- Aubry Jean-Francois
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- Xu Zhiyuan
- Xu Zhiyuan
- Xu Zhiyuan
- Yang Georgiana
- Yang Nai-Yi
- Yao Chen
- Yarmolenko Pavel
- Yarmolenko Pavel
- Yarmolenko Pavel
- Yarmolenko Pavel
- Yarowsky Paul
- Ye Patrick P
- Yoo Seung-Schik
- Yoo Seung-Schik
- Yuldashev Petr
- Zaaroor Menashe
- Zachiu Cornel
- Zahos Peter
- Zaletel Katja
- Zaletel Katja
- Zangos Stephan
- Zhang Dandan
- Zhang Hua
- Zhang Jimin
- Zhang Junhai
- Zhang Xi
- Zhang Ying
- Zhang Ying
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhang Yong-Zhi
- Zhao Li
- Zhong Pei
- Zhuo Jiachen
- Zidowitz Stephan
- Zinke Wolf
- Zorgani Ali
- Publication venue
- University of Toronto
- Publication date
- 27/03/2018
- Field of study