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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Authors
Cora M Aalfs
Kristiina Aittomäki
+98 more
Irene Andrulis
Hoda Anton-Culver
Volker Arndt
Matthias W Beckmann
Javier Benitez
Natalia V Bogdanova
Stig E Bojesen
Manjeet K Bolla
Anne-Lise Borresen-Dale
Hiltrud Brauch
Paul Brennan
Hermann Brenner
Annegien Broeks
Barbara Brouwers
Thomas Brüning
Barbara Burwinkel
Fabienne MGR Calléja
Jenny Chang-Claude
Georgia Chenevix-Trench
Ching-Yu Cheng
Ji-Yeob Choi
J Margriet Collée
Angela Cox
Simon S Cross
Kamila Czene
Hatef Darabi
Joe Dennis
Isabel dos-Santos-Silva
Alison M Dunning
Thilo Dörk
Asa Ehlen
Peter A Fasching
Jonine Figueroa
Henrik Flyger
Montserrat García-Closas
Graham G Giles
Gord Glendon
Lucia Guidugli
Pascal Guénel
Christopher A Haiman
Per Hall
Emily Hallberg
Ute Hamann
Mikael Hartman
Jamie Hinton
Frans B Hogervorst
Antoinette Hollestelle
John L Hopper
Chunling Hu
Hidemi Ito
Anna Jakubowska
Daehee Kang
Veli-Matti Kosma
Vessela Kristensen
Kah-Nyin Lai
Diether Lambrechts
Loic Le Marchand
Jingmei Li
Jenna Lilyquist
Annika Lindblom
Artitaya Lophatananon
Jan Lubinski
Eva Machackova
Arto Mannermaa
Sara Margolin
Frederik Marme
Charlotte Martin
Keitaro Matsuo
Huong Meeks
Romy LS Mesman
Hui Miao
Kyriaki Michailidou
Roger L Milne
Kenneth Muir
Susan L Neuhausen
Heli Nevanlinna
Janet E Olson
Curtis Olswold
Jan JC Oosterwijk
Ana Osorio
Paolo Peterlongo
Julian Peto
Paul DP Pharoah
Katri Pylkäs
Paolo Radice
Muhammad Usman Rashid
Valerie Rhenius
Anja Rudolph
Suleeporn Sangrajrang
Elinor J Sawyer
Marjanka K Schmidt
Minouk J Schoemaker
Caroline Seynaeve
Mitul Shah
Chen-Yang Shen
Hermela Shimelis
Martha Shrubsole
Catharina Von Nicolai
Publication date
1 June 2017
Publisher
eScholarship, University of California
Abstract
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789-99. ©2017 AACR
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Last time updated on 25/07/2023