Journal article
Breast-cancer risk in families with mutations in PALB2
AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkäs, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, E Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomäki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi Show all
Obstetrical and Gynecological Survey | MASSACHUSETTS MEDICAL SOC | Published : 2014
Abstract
BACKGROUND: Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifetime risk of breast cancer that is conferred by such mutations remains unknown. METHODS: We analyzed the risk of breast cancer among 362 members of 154 families who had deleterious truncating, splice, or deletion mutations in PALB2. The age-specific breast-cancer risk for mutation carriers was estimated with the use of a modified segregation-analysis approach that allowed for the effects of PALB2 genotype and residual familial aggregation. RESULTS: The risk of breast cancer for female PALB2 mutation carriers, as compared with the general population, was eight to ni..
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Grants
Awarded by European Research Council
Funding Acknowledgements
Supported by grants from the European Union Seventh Framework Program (2007-2013)/European Research Council (310018, to Dr. Tischkowitz); Cancer Research UK (C12292/A11174, to Dr. Antoniou); the National Institutes of Health (R01CA175716, to Drs. Casadei and King; CA128978, CA116167, and CA116201, to Dr. Couch; and RFA CA-06-503, UM1 CA164920, RFA CA-06-503, U01 CA69467, U01 CA69417, U01 CA69398, U01 CA69631, U01 CA69446, and U01 CA69638, to Drs. Teo, Southey, Andrulis, Goldgar, and Hopper); the Academy of Finland (122715, to Dr. Winqvist; 250083, to Dr. Pylkas; Center of Excellence 251314, to Dr. Winqvist; and 266528, to Dr. Nevanlinna); the Finnish Cancer Foundation (to Dr. Winqvist and to Dr. Nevanlinna); the Sigrid Juselius Foundation (to Dr. Winqvist and to Dr. Nevanlinna); the University of Oulu, the University of Oulu Support Foundation and Biocenter Oulu, and the special Finnish Government EVO funds for Oulu University Hospital-based research activities (to Dr. Winqvist); the Helsinki University Central Hospital Research Fund and the Nordic Cancer Union (to Dr. Nevanlinna); the Fund for Scientific Research Flanders (G.A044.10, to Dr. Claes); Ghent University (BOF10/GOA/019, to Dr. De Leeneer); the European Union European Social Fund and Greek national funds through the operational program "Education and Lifelong Learning" of the National Strategic Reference Framework Research Funding Program, General Secretariat for Research and Technology (to Dr. Yannoukakos); Ohio State Comprehensive Cancer Center and the Stefanie Spielman Fund for Breast Cancer Research (to Dr. Toland); the National Cancer Institute (RC4A153828, to Dr. Weitzel; and CA083178, CA097397, CA114236, and CA129639, to Drs. Concannon and Bernstein); Susan G. Komen (to Drs. Domchek and Foulkes); Associazione Italiana per la Ricerca sul Cancro (IG 4017, to Drs. Manoukian and Peterlongo); Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Istituto Nazionale Tumori (to Dr. Peterlongo); and National Health and Medical Research Council Australia (APP1029974), the Victorian Cancer Agency (CTTS07, EOI09_50), and the Victorian Breast Cancer Research Consortium (to Dr. Southey).