No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Beitrag in einer Fachzeitschrift


Details zur Publikation

Autorinnen und Autoren: Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomaki K, Anton-Culver H, Arndt V, Baynes C, Beckmann M, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching P, Figueroa J, Flyger H, Fostira F, Garcia-Closas M, Giles GG, Glendon G, Gonzalez-Neira A, Guenel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D, Kosma VM, Kristensen V, Lambrechts D, Li N, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K, Nevelsteen I, Van Den Ouweland A, Peterlongo P, Phuah SY, Pylkas K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Doerk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PDP, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G
Zeitschrift: Journal of Medical Genetics
Jahr der Veröffentlichung: 2016
Band: 53
Heftnummer: 5
Seitenbereich: 298-309
ISSN: 0022-2593
eISSN: 1468-6244


Abstract

BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction.
METHODS: We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia.
RESULTS: The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).
CONCLUSIONS: These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.


FAU-Autorinnen und Autoren / FAU-Herausgeberinnen und Herausgeber

Beckmann, Matthias Prof. Dr.
Lehrstuhl für Geburtshilfe und Frauenheilkunde
Fasching, Peter PD Dr.
Professur für Translationale Frauenheilkunde und Geburtshilfe


Einrichtungen weiterer Autorinnen und Autoren

Academia Sinica / 中央研究院
Aichi Cancer Center Research Institute
Antoni van Leeuwenhoek
Beckman Research Institute of City of Hope (BRI)
Cancer Council Victoria
Cancer Prevention Institute of California (CPIC)
Centre Léon-Bérard (UNICANCER)
China Medical University (CMU) / 中國醫藥大學
Copenhagen University Hospital
Deutsches Krebsforschungszentrum (DKFZ)
Erasmus University Rotterdam (EUR) / Erasmus Universiteit Rotterdam
Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB)
Fondazione IRCCS: Istituto Nazionale dei Tumori
Guy's and St Thomas'
Helsingin yliopisto / University of Helsinki
Herlev Hospital
IFOM - FIRC Institute of Molecular Oncology
International Agency for Research on Cancer (IARC)
John Hunter Hospital
Karolinska Institute
Leiden University
Mayo Clinic
Medizinische Hochschule Hannover (MHH) / Hannover Medical School
Mines ParisTech / École Nationale Supérieure des Mines de Paris (ENSMP)
Mount Sinai Hospital (MSH)
National Cancer Institute (NCI)
National Centre for Scientific Research (NCSR) "Demokritos"
National University of Singapore (NUS)
NordLab
Oslo University Hospital / Oslo Universitetssykehus
Peter MacCallum Cancer Centre
Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU)
QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research)
Seoul National University (SNU) / 서울대학교
Shanghai Center For Disease Control And Prevention (SCDC)
Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO)
Technische Universität München (TUM)
The Institute of Cancer Research (ICR)
The University of Melbourne
Universitätsklinikum Köln
University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven
University of California Irvine
University of Cambridge
University of Eastern Finland
University of Malaya (UM) / Universiti Malaya
University of Oxford
University of Paris 11 - Paris-Sud / Université Paris XI Paris-Sud
University of Sheffield
University of Utah
University of Warwick
Vanderbilt University


Zitierweisen

APA:
Easton, D.F., Lesueur, F., Decker, B., Michailidou, K., Li, J., Allen, J.,... Chenevix-Trench, G. (2016). No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Journal of Medical Genetics, 53(5), 298-309. https://dx.doi.org/10.1136/jmedgenet-2015-103529

MLA:
Easton, Douglas F., et al. "No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing." Journal of Medical Genetics 53.5 (2016): 298-309.

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Zuletzt aktualisiert 2019-21-07 um 08:06