PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer
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PALB2 (partner and localizer of BRCA2) has been recently described as a breast cancer predisposing gene [1, 2]. In the first report, PALB2 truncating mutations were identified in 10/923 (1.1%) English familial breast cancer cases . Subsequent studies in Spanish, Chinese and Italian familial breast cancer found truncating mutations with frequencies ranging between 0.8 and 1.1% [3, 4, 5, 6]. Also, PALB2 founder mutations were observed in 2.7% Finnish  and 0.6% Polish  familial breast cancer cases, and in 0.7% French-Canadian breast cancer cases with early onset disease .
Recently, exomic sequencing revealed a germline truncating mutation of PALB2 in a familial pancreatic cancer case . In the same study, the sequencing of PALB2in 96 additional familial pancreatic cancer patients, ascertained in the US, identified truncating mutations in three cases. A subsequent larger survey analyzed 254 sporadic and familial pancreatic cancer cases ascertained in Toronto...
KeywordsPAB2 Familial breast cancer Breast cancer risk Pancreatic cancer risk Truncating mutation CRC
The authors wish to thank all patients and families who participated to this study. This study was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project “Hereditary tumors”), Associazione Italiana per la Ricerca sul Cancro (4017), Ministero della Salute (RFPS-2006-3-340203; Extraordinary National Cancer Program 2006, “Alleanza contro il Cancro”; “Progetto Tumori Femminili), Ministero dell’Universita’ e Ricerca (RBLAO3-BETH), Istituto Superiore di Sanita` (526D/41), Lega Italiana per la Lotta contro i Tumori (progetto 02/12/R/47) and by funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5x1000’).
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