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
Publish Date: 2011/10/12
Volume: 11, Issue: 1, Pages: 41-47
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 susceptibilityGenoa Pancreatic Cancer Study Group GPCSG collaborators PGhiorzo F Belli L Bonelli G Borgonovo S Chiara F De Cian A Decensi P Dulbecco M Filauro G Fornarini A Gozza L Mastracci S Sciallero F Papadia P Queirolo C Parodi P Romagnoli G Sacchi V Savarino and G Bianchi ScarràWe are grateful to Chiara Baldo at the Galliera Genetic Bank—Network of Telethon Genetic Biobanks project GTB07001 for providing lymphoblastoid celllines This study was funded by IRCSS 2007 Italian Ministry of Health DGRST4/4235P19AB Fondazione CARIGE PRIN 2008 to GBS
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