| Literature DB >> 33597508 |
Juliette Coignard1,2,3,4,5,6, Michael Lush4, Jonathan Beesley7, Tracy A O'Mara7, Joe Dennis4, Jonathan P Tyrer8, Daniel R Barnes4, Lesley McGuffog4, Goska Leslie4, Manjeet K Bolla4, Muriel A Adank9, Simona Agata10, Thomas Ahearn11, Kristiina Aittomäki12, Irene L Andrulis13,14, Hoda Anton-Culver15, Volker Arndt16, Norbert Arnold17,18, Kristan J Aronson19, Banu K Arun20, Annelie Augustinsson21, Jacopo Azzollini22, Daniel Barrowdale4, Caroline Baynes8, Heiko Becher23, Marina Bermisheva24, Leslie Bernstein25, Katarzyna Białkowska26, Carl Blomqvist27,28, Stig E Bojesen29,30,31, Bernardo Bonanni32, Ake Borg33, Hiltrud Brauch34,35,36, Hermann Brenner16,36,37, Barbara Burwinkel38,39, Saundra S Buys40, Trinidad Caldés41, Maria A Caligo42, Daniele Campa43,44, Brian D Carter45, Jose E Castelao46, Jenny Chang-Claude44,47, Stephen J Chanock11, Wendy K Chung48, Kathleen B M Claes49, Christine L Clarke50, J Margriet Collée51, Don M Conroy8, Kamila Czene52, Mary B Daly53, Peter Devilee54,55, Orland Diez56,57, Yuan Chun Ding25, Susan M Domchek58, Thilo Dörk59, Isabel Dos-Santos-Silva60, Alison M Dunning8, Miriam Dwek61, Diana M Eccles62, A Heather Eliassen63,64, Christoph Engel65, Mikael Eriksson52, D Gareth Evans66,67, Peter A Fasching68,69, Henrik Flyger70, Florentia Fostira71, Eitan Friedman72,73, Lin Fritschi74, Debra Frost4, Manuela Gago-Dominguez75,76, Susan M Gapstur45, Judy Garber77, Vanesa Garcia-Barberan78, Montserrat García-Closas11, José A García-Sáenz78, Mia M Gaudet45, Simon A Gayther79, Andrea Gehrig80, Vassilios Georgoulias81, Graham G Giles82,83,84, Andrew K Godwin85, Mark S Goldberg86,87, David E Goldgar88, Anna González-Neira89, Mark H Greene90, Pascal Guénel91, Lothar Haeberle92, Eric Hahnen93,94, Christopher A Haiman95, Niclas Håkansson96, Per Hall52,96, Ute Hamann97, Patricia A Harrington8, Steven N Hart98, Wei He52, Frans B L Hogervorst9, Antoinette Hollestelle99, John L Hopper83, Darling J Horcasitas100, Peter J Hulick101,102, David J Hunter64,103,104, Evgeny N Imyanitov105, Agnes Jager99, Anna Jakubowska26,106, Paul A James107,108, Uffe Birk Jensen109, Esther M John110,111, Michael E Jones111, Rudolf Kaaks44, Pooja Middha Kapoor44,112, Beth Y Karlan113,114, Renske Keeman115, Elza Khusnutdinova24,116, Johanna I Kiiski117, Yon-Dschun Ko118, Veli-Matti Kosma119,120,121, Peter Kraft64,103, Allison W Kurian110,111, Yael Laitman72, Diether Lambrechts122,123, Loic Le Marchand124, Jenny Lester113,114, Fabienne Lesueur1,2,3,5, Tricia Lindstrom98, Adria Lopez-Fernández125, Jennifer T Loud90, Craig Luccarini8, Arto Mannermaa119,120,121, Siranoush Manoukian22, Sara Margolin96,126, John W M Martens99, Noura Mebirouk1,2,3,5, Alfons Meindl127, Austin Miller128, Roger L Milne82,83,84, Marco Montagna10, Katherine L Nathanson58, Susan L Neuhausen25, Heli Nevanlinna117, Finn C Nielsen129, Katie M O'Brien130, Olufunmilayo I Olopade131, Janet E Olson98, Håkan Olsson21, Ana Osorio89,132, Laura Ottini133, Tjoung-Won Park-Simon59, Michael T Parsons7, Inge Sokilde Pedersen134,135,136, Beth Peshkin137, Paolo Peterlongo138, Julian Peto60, Paul D P Pharoah4,8, Kelly-Anne Phillips7,83,107, Eric C Polley98, Bruce Poppe49, Nadege Presneau61, Miquel Angel Pujana139, Kevin Punie140, Paolo Radice141, Johanna Rantala142, Muhammad U Rashid97,143, Gad Rennert144, Hedy S Rennert144, Mark Robson145, Atocha Romero146, Maria Rossing129, Emmanouil Saloustros147, Dale P Sandler130, Regina Santella148, Maren T Scheuner149, Marjanka K Schmidt115,150, Gunnar Schmidt151, Christopher Scott98, Priyanka Sharma152, Penny Soucy153, Melissa C Southey84,154, John J Spinelli155,156, Zoe Steinsnyder157, Jennifer Stone83,158, Dominique Stoppa-Lyonnet159,160,161, Anthony Swerdlow111,162, Rulla M Tamimi63,64,103, William J Tapper62, Jack A Taylor130,163, Mary Beth Terry148, Alex Teulé164, Darcy L Thull165, Marc Tischkowitz166,167, Amanda E Toland168, Diana Torres97,169, Alison H Trainer108,170, Thérèse Truong91, Nadine Tung171, Celine M Vachon172, Ana Vega173, Joseph Vijai145,157, Qin Wang4, Barbara Wappenschmidt93,94, Clarice R Weinberg174, Jeffrey N Weitzel175, Camilla Wendt126, Alicja Wolk176,177, Siddhartha Yadav178, Xiaohong R Yang11, Drakoulis Yannoukakos71, Wei Zheng179, Argyrios Ziogas15, Kristin K Zorn180, Sue K Park181,182,183, Mads Thomassen184, Kenneth Offit145,157, Rita K Schmutzler93,94, Fergus J Couch185, Jacques Simard15, Georgia Chenevix-Trench7, Douglas F Easton4,8, Nadine Andrieu186,187,188,189, Antonis C Antoniou190.
Abstract
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.Entities:
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Year: 2021 PMID： 33597508 PMCID： PMC7890067 DOI： 10.1038/s41467-020-20496-3
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 17.694