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

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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.

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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.

Author information

Authors and Affiliations

  1. Department of Oncology, Biology and Genetics, University of Genoa, V.le Benedetto XV, 6, 16129, Genoa, Italy

    P. Ghiorzo, W. Bruno, S. Gargiulo, S. Nasti, L. Pastorino & G. Bianchi Scarrà

  2. FIRC Institute of Molecular Oncology Foundation (IFOM), Milan, Italy

    V. Pensotti

  3. Medical Oncology Unit, San Martino Hospital, Genoa, Italy

    G. Fornarini & S. Sciallero

  4. Department of Health Sciences, University of Genoa, Genoa, Italy

    L. Battistuzzi

  5. General and Biliopancreatic Surgery Unit, Galliera Hospital, Genoa, Italy

    F. Belli

  6. Secondary Prevention and Screening, National Cancer Institute, Milan, Italy

    L. Bonelli

  7. Department of Surgery, University of Genoa, Genoa, Italy

    G. Borgonovo & F. Papadia

  8. Medical Oncology Unit Galliera Hospital, Genoa, Italy

    A. Gozza

  9. Department of Anatomic Pathology, University of Genova, Genoa, Italy

    L. Mastracci

  10. Institute of Biomolecular Chemistry, National Research Council, Sassari, Italy

    G. Palmieri

  11. Department of Surgery and Oncology, University of Palermo, Palermo, Italy

    A. Russo

  12. Department of Internal Medicine, University of Genoa, Genoa, Italy

    V. Savarino

  13. Center for Hereditary Tumors, National Cancer Institute, Genoa, Italy

    L. Varesco

  14. Department of Experimental Oncology, European Institute of Oncology, Milan, Italy

    L. Bernard

  15. Laboratory of Rare Hereditary Cancers, San Martino Hospital, Genoa, Italy

    G. Bianchi Scarrà

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  1. P. Ghiorzo
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  16. L. Pastorino
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  18. V. Savarino
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  20. L. Bernard
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for the Genoa Pancreatic Cancer Study Group

Corresponding author

Correspondence to P. Ghiorzo.

Additional information

L. Bernard, G. Bianchi Scarrà contributed equally.

Genoa Pancreatic Cancer Study Group (GPCSG) collaborators: P.Ghiorzo, 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 Scarrà.

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Ghiorzo, P., Pensotti, V., Fornarini, G. et al. Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Familial Cancer 11, 41–47 (2012). https://doi.org/10.1007/s10689-011-9483-5

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