Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Mavaddat N, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann M, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova N, Bojesen SE, Briceno I, Bruning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Christiansen H, Czene K, Dork T, Eriksson M, Evans DG, Fasching P, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, Geisler J, Giles GG, Guenel P, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Hartikainen JM, Hartman M, Hoppe R, Howell A, Jakubowska A, Jung A, Khusnutdinova EK, Kristensen VN, Li J, Lim SH, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Taib NAM, Morra A, Muir K, Obi N, Osorio A, Park-Simon TW, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Thorne H, Tomlinson I, Torres D, Truong T, Yip CH, Spurdle AB, Vreeswijk MPG, Dunning AM, Garcia-Closas M, Pharoah PDP, Kvist A, Muranen TA, Nevanlinna H, Teo SH, Devilee P, Schmidt MK, Easton DF (2022)

Publication Type: Journal article

Publication year: 2022

Journal

DOI: 10.1001/jamaoncol.2021.6744

Abstract

IMPORTANCE Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant to guidelines for gene panel testing and risk prediction.

Authors with CRIS profile

Involved external institutions

University of Cambridge United Kingdom (GB) Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO) Spain (ES) Antoni van Leeuwenhoek Netherlands (NL) National Cancer Institute (NCI) United States (USA) (US) Mount Sinai Hospital (MSH) Canada (CA) Deutsches Krebsforschungszentrum (DKFZ) Germany (DE) Russian Academy of Sciences / Росси́йская акаде́мия нау́к (RAS) Russian Federation (RU) Helsingin yliopisto / University of Helsinki Finland (FI) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Copenhagen University Hospital Denmark (DK) Universidad de La Sabana Colombia (CO) Ruhr-Universität Bochum (RUB) Germany (DE) University of Utah United States (USA) (US) University of Edinburgh United Kingdom (GB) Servizo Galego de Saúde Spain (ES) QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research) Australia (AU) Karolinska Institute Sweden (SE) Complejo Hospitalario Universitario de Santiago de Compostela Spain (ES) University of Manchester United Kingdom (GB) Akershus University Hospital / Akershus universitetssykehus (Ahus) Norway (NO) Cancer Council Victoria Australia (AU) École Polytechnique - Université Paris-Saclay France (FR) Cyprus Institute of Neurology and Genetics Cyprus (CY) Universität zu Köln Germany (DE) University of Eastern Finland Finland (FI) National University of Singapore (NUS) Singapore (SG) Robert-Bosch-Krankenhaus Germany (DE) University of Oslo Norway (NO) National University Health System (NUHS) Singapore (SG) KK Women's and Children's Hospital Singapore (SG) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) Poland (PL) Södersjukhuset Sweden (SE) University General Hospital of Heraklion Greece (GR) University of Malaya (UM) / Universiti Malaya Malaysia (MY) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) IFOM - FIRC Institute of Molecular Oncology Italy (IT) Fondazione IRCCS: Istituto Nazionale dei Tumori Italy (IT) General University Hospital of Larissa Greece (GR) King’s College London United Kingdom (GB) Peter MacCallum Cancer Centre Australia (AU) University of Birmingham United Kingdom (GB) Leiden University Medical Center Netherlands (NL) Lund University / Lunds universitet Sweden (SE)

How to cite

APA:

Mavaddat, N., Dorling, L., Carvalho, S., Allen, J., Gonzalez-Neira, A., Keeman, R.,... Easton, D.F. (2022). Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. JAMA Oncology. https://doi.org/10.1001/jamaoncol.2021.6744

MLA:

Mavaddat, Nasim, et al. "Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes." JAMA Oncology (2022).

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