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01-03-2012 | Original Article

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

Authors: P. Ghiorzo, V. Pensotti, G. Fornarini, S. Sciallero, L. Battistuzzi, F. Belli, L. Bonelli, G. Borgonovo, W. Bruno, A. Gozza, S. Gargiulo, L. Mastracci, S. Nasti, G. Palmieri, F. Papadia, L. Pastorino, A. Russo, V. Savarino, L. Varesco, L. Bernard, G. Bianchi Scarrà, for the Genoa Pancreatic Cancer Study Group

Published in: Familial Cancer | Issue 1/2012

Abstract

Pancreatic adenocarcinoma (PC) is the third most common cancer associated with BRCA mutations. Most notice has been given to BRCA2, while the association between BRCA1 and PC is less widely reported. Recently, PALB2 has been implicated in both PC and breast cancer (BC) susceptibility. We selected 29 Italian PC patients from a case–control study of PC according to their personal and family history of both PC and breast/ovarian cancer (BC/OC) and tested them for presence of germline mutations in BRCA1, BRCA2 and PALB2. We identified no germline mutations or deletions in PALB2, but detected 7 BRCA mutations (4 in BRCA1 and 3 in BRCA2). These findings suggest that PALB2 does not play a major role in PC susceptibility in our population. As we found an almost equal frequency of germline mutations in BRCA1 and BRCA2, germline alterations in either of these genes may explain a subset of Italian families presenting both PC and BC/OC. Moreover, as we began the observation of these families from probands who are affected by PC, we provide here a direct assessment of the role of PALB2 and BRCA mutations in PC susceptibility.

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Title: Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy
Authors: P. Ghiorzo
V. Pensotti
G. Fornarini
S. Sciallero
L. Battistuzzi
F. Belli
L. Bonelli
G. Borgonovo
W. Bruno
A. Gozza
S. Gargiulo
L. Mastracci
S. Nasti
G. Palmieri
F. Papadia
L. Pastorino
A. Russo
V. Savarino
L. Varesco
L. Bernard
G. Bianchi Scarrà
for the Genoa Pancreatic Cancer Study Group
Publication date: 01-03-2012
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 1/2012
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-011-9483-5

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