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

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RESEARCH PRODUCT

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

Ghiorzo P Pensotti V Fornarini G Sciallero S Battistuzzi L Belli F Bonelli L Borgonovo G Bruno W Gozza A Gargiulo S Mastracci L Nasti S Palmieri G Papadia F Pastorino L Russo A Savarino V Varesco L Bernard L Bianchi Scarrà G Bianchi Scarra G

subject

Male Cancer Research endocrine system diseases Settore MED/06 - Oncologia Medica BRCA Germline Germline mutation Hereditary breast ovarian cancer syndrome (HBOC)skin and connective tissue diseases Genetics (clinical)Nuclear Protein Ovarian Neoplasms Aged 80 and over Genetics education.field_of_study BRCA1 Protein Pancreatic Neoplasm Nuclear Proteins Middle Aged female genital diseases and pregnancy complications Pedigree Italy Oncology Adenocarcinoma Female Case-Control Studie Fanconi Anemia Complementation Group N Protein Pancreatic cancer susceptibility; BRCA; PALB2; Hereditary breast ovarian cancer syndrome (HBOC); Germline mutation Breast Neoplasm Human Adult PALB2 Population Breast Neoplasms Adenocarcinoma Germline mutation Breast cancer Genetic Pancreatic cancer Genetics medicine Humans Genetic Predisposition to Disease education Germ-Line Mutation Aged BRCA2 Protein Tumor Suppressor Protein business.industry Tumor Suppressor Proteins Ovarian Neoplasm Cancer medicine.disease Pancreatic cancer susceptibility Pancreatic Neoplasms Case-Control Studies PALB2 business Gene Deletion

description

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. © 2011 Springer Science+Business Media B.V.

year	journal	country	edition	language
2012-01-01	Familial Cancer

https://doi.org/10.1007/s10689-011-9483-5