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

Content Provider	Springer Nature Link
Author	Ghiorzo, P. Pensotti, V. Fornarini, G. Sciallero, S. Battistuzzi, L. Belli, F. Bonelli, L. Borgovo, G. Bru, W. Gozza, A. Gargiulo, S. Mastracci, L. Nasti, S. Palmieri, G. Papadia, F. Pastori, L. Russo, A. Savari, V. Varesco, L. Bernard, L. Bianchi Scarrà, G.
Copyright Year	2011
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.
Starting Page	41
Ending Page	47
Page Count	7
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-10-12
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Pancreatic cancer susceptibility BRCA PALB2 Hereditary breast ovarian cancer syndrome (HBOC) Germline mutation Cancer Research Biomedicine general Human Genetics Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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