Article
Breast-cancer risk in families with mutations in PALB2.
The New England journal of medicine - 7 Aug 2014
Antoniou Antonis C, Casadei Silvia, Heikkinen Tuomas, Barrowdale Daniel, Pylkäs Katri, Roberts Jonathan, Lee Andrew, Subramanian Deepak, De Leeneer Kim, Fostira Florentia, Tomiak Eva, Neuhausen Susan L, Teo Zhi L, Khan Sofia, Aittomäki Kristiina, Moilanen Jukka S, Turnbull Clare, Seal Sheila, Mannermaa Arto, Kallioniemi Anne, Lindeman Geoffrey J, Buys Saundra S, Andrulis Irene L, Radice Paolo, Tondini Carlo, Manoukian Siranoush, Toland Amanda E, Miron Penelope, Weitzel Jeffrey N, Domchek Susan M, Poppe Bruce, Claes Kathleen B M, Yannoukakos Drakoulis, Concannon Patrick, Bernstein Jonine L, James Paul A, Easton Douglas F, Goldgar David E, Hopper John L, Rahman Nazneen, Peterlongo Paolo, Nevanlinna Heli, King Mary-Claire, Couch Fergus J, Southey Melissa C, Winqvist Robert, Foulkes William D, Tischkowitz Marc
Abstract excerpt
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...
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