title: Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
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.
authors: Department of Oncology, Biology and Genetics, University of Genoa, V.le Benedetto XV, 6, 16129, Genoa, Italy. paola.ghiorzo@unige.it
authors: P
authors: P
authors: Ghiorzo
authors: V
authors: V
authors: Pensotti
authors: G
authors: G
authors: Fornarini
authors: S
authors: S
authors: Sciallero
authors: L
authors: L
authors: Battistuzzi
authors: F
authors: F
authors: Belli
authors: L
authors: L
authors: Bonelli
authors: G
authors: G
authors: Borgonovo
authors: W
authors: W
authors: Bruno
authors: A
authors: A
authors: Gozza
authors: S
authors: S
authors: Gargiulo
authors: L
authors: L
authors: Mastracci
authors: S
authors: S
authors: Nasti
authors: G
authors: G
authors: Palmieri
authors: F
authors: F
authors: Papadia
authors: L
authors: L
authors: Pastorino
authors: A
authors: A
authors: Russo
authors: V
authors: V
authors: Savarino
authors: L
authors: L
authors: Varesco
authors: L
authors: L
authors: Bernard
authors: G
authors: G
authors: Bianchi Scarrà
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D016022:Case-Control Studies; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010375:Pedigree; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins