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PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

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References

  1. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Breast Cancer SusceptibilityCollaboration (UK), Easton DF, Stratton MR (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165–167

    Article  PubMed  CAS  Google Scholar 

  2. Stratton MR, Rahman N (2008) The emerging landscape of breast cancer susceptibility. Nat Genet 40:17–22

    Article  PubMed  CAS  Google Scholar 

  3. García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y, Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J (2009) Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat 113:545–551

    Article  PubMed  Google Scholar 

  4. Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, Zhang B, Su FX, Zhou J, Di GH, Shen KW, Wu J, Lu JS, Luo JM, Yuan WT, Shen ZZ, Huang W, Shao ZM (2009) The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat 114:457–462

    Article  PubMed  CAS  Google Scholar 

  5. Papi L, Putignano AL, Congregati C, Piaceri I, Zanna I, Sera F, Morrone D, Genuardi M, Palli D (2009) A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer 9:181–185

    Article  PubMed  Google Scholar 

  6. Balia C, Sensi E, Lombardi G, Roncella M, Bevilacqua G, Caligo MA (2010) PALB2: a novel inactivating mutation in a Italian breast cancer family. Fam Cancer 4:531–536

    Article  Google Scholar 

  7. Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316–319

    Article  PubMed  CAS  Google Scholar 

  8. Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, Derlatka P, Cendrowski K, Kupryjanczyk J (2010) A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 11:20

    Article  PubMed  Google Scholar 

  9. Ghadirian P, Robidoux A, Zhang P, Royer R, Akbari M, Zhang S, Fafard E, Costa M, Martin G, Potvin C, Patocskai E, Larouche N, Younan R, Nassif E, Giroux S, Narod SA, Rousseau F, Foulkes WD (2009) The contribution of founder mutations to early-onset breast cancer in French-Canadian women. Clin Genet 76:421–426

    Article  PubMed  CAS  Google Scholar 

  10. Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP (2009) Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324:217

    Article  PubMed  CAS  Google Scholar 

  11. Tischkowitz MD, Sabbaghian N, Hamel N, Borgida A, Rosner C, Taherian N, Srivastava A, Holter S, Rothenmund H, Ghadirian P, Foulkes WD, Gallinger S (2009) Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology 137:1183–1186

    Article  PubMed  Google Scholar 

  12. Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, Stacchiotti S, Terenziani M, Barbera F, Pasquini G, Frigerio S, Pierotti MA, Radice P, Della-Torre G (2007) Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. Eur J Cancer 43:601–606

    Article  PubMed  CAS  Google Scholar 

  13. Byrnes GB, Southey MC, Hopper JL (2008) Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res 10:208

    Article  PubMed  Google Scholar 

  14. Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, Neoptolemos J, Greenhalf W, Bartsch DK (2010) PALB2 mutations in European familial pancreatic cancer families. Clin Genet 78:490–494

    Article  PubMed  CAS  Google Scholar 

  15. Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, Darnel A, Royer R, Poll A, Fafard E, Robidoux A, Martin G, Bismar TA, Tischkowitz M, Rousseau F, Narod SA (2007) Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res 9:R83

    Article  PubMed  Google Scholar 

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Acknowledgments

The authors wish to thank all patients and families who participated to this study. This study was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project “Hereditary tumors”), Associazione Italiana per la Ricerca sul Cancro (4017), Ministero della Salute (RFPS-2006-3-340203; Extraordinary National Cancer Program 2006, “Alleanza contro il Cancro”; “Progetto Tumori Femminili), Ministero dell’Universita’ e Ricerca (RBLAO3-BETH), Istituto Superiore di Sanita` (526D/41), Lega Italiana per la Lotta contro i Tumori (progetto 02/12/R/47) and by funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5x1000’).

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Authors and Affiliations

  1. IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy

    Paolo Peterlongo, Irene Catucci, Mirko Riboni & Paolo Radice

  2. Department of Preventive and Predictive Medicine, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy

    Paolo Peterlongo, Irene Catucci, Graziella Pasquini & Paolo Radice

  3. Unit of Medical Statistics and Biometry, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy

    Paolo Verderio

  4. Department of Preventive and Predictive Medicine, Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy

    Bernard Peissel & Siranoush Manoukian

  5. Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy

    Monica Barile

  6. Unit of Hereditary Cancers, Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy

    Liliana Varesco

  7. Cogentech, Consortium for Genomic Technologies, Milan, Italy

    Stefano Fortuzzi

Authors
  1. Paolo Peterlongo
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  2. Irene Catucci
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  3. Graziella Pasquini
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  4. Paolo Verderio
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  5. Bernard Peissel
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  6. Monica Barile
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  7. Liliana Varesco
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  8. Mirko Riboni
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  9. Stefano Fortuzzi
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  10. Siranoush Manoukian
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  11. Paolo Radice
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Corresponding author

Correspondence to Paolo Radice.

Additional information

Paolo Peterlongo, Irene Catucci are contributed equally to this work.

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Peterlongo, P., Catucci, I., Pasquini, G. et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat 126, 825–828 (2011). https://doi.org/10.1007/s10549-010-1305-1

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  • DOI: https://doi.org/10.1007/s10549-010-1305-1

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