Familial Cancer

, Volume 11, Issue 1, pp 41–47 | Cite as

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

  • 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
Original Article

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.

Keywords

Pancreatic cancer susceptibility BRCA PALB2 Hereditary breast ovarian cancer syndrome (HBOC) Germline mutation 

Notes

Acknowledgments

We are grateful to Chiara Baldo at the Galliera Genetic Bank—Network of Telethon Genetic Biobanks (project GTB07001) for providing lymphoblastoid cell-lines. This study was funded by IRCSS 2007 Italian Ministry of Health DGRST.4/4235-P1.9.A.B, Fondazione CARIGE, PRIN 2008 to G.B.-S.

Conflict of interest

None declared.

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Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • P. Ghiorzo
    • 1
  • V. Pensotti
    • 2
  • G. Fornarini
    • 3
  • S. Sciallero
    • 3
  • L. Battistuzzi
    • 4
  • F. Belli
    • 5
  • L. Bonelli
    • 6
  • G. Borgonovo
    • 7
  • W. Bruno
    • 1
  • A. Gozza
    • 8
  • S. Gargiulo
    • 1
  • L. Mastracci
    • 9
  • S. Nasti
    • 1
  • G. Palmieri
    • 10
  • F. Papadia
    • 7
  • L. Pastorino
    • 1
  • A. Russo
    • 11
  • V. Savarino
    • 12
  • L. Varesco
    • 13
  • L. Bernard
    • 14
  • G. Bianchi Scarrà
    • 1
    • 15
  • for the Genoa Pancreatic Cancer Study Group
  1. 1.Department of Oncology, Biology and GeneticsUniversity of GenoaGenoaItaly
  2. 2.FIRC Institute of Molecular Oncology Foundation (IFOM)MilanItaly
  3. 3.Medical Oncology Unit, San Martino HospitalGenoaItaly
  4. 4.Department of Health SciencesUniversity of GenoaGenoaItaly
  5. 5.General and Biliopancreatic Surgery Unit, Galliera HospitalGenoaItaly
  6. 6.Secondary Prevention and Screening, National Cancer InstituteMilanItaly
  7. 7.Department of SurgeryUniversity of GenoaGenoaItaly
  8. 8.Medical Oncology Unit Galliera HospitalGenoaItaly
  9. 9.Department of Anatomic PathologyUniversity of GenovaGenoaItaly
  10. 10.Institute of Biomolecular Chemistry, National Research CouncilSassariItaly
  11. 11.Department of Surgery and OncologyUniversity of PalermoPalermoItaly
  12. 12.Department of Internal MedicineUniversity of GenoaGenoaItaly
  13. 13.Center for Hereditary Tumors, National Cancer InstituteGenoaItaly
  14. 14.Department of Experimental OncologyEuropean Institute of OncologyMilanItaly
  15. 15.Laboratory of Rare Hereditary Cancers, San Martino HospitalGenoaItaly

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