Breast Cancer Research and Treatment

, Volume 126, Issue 3, pp 825–828 | Cite as

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

  • Paolo Peterlongo
  • Irene Catucci
  • Graziella Pasquini
  • Paolo Verderio
  • Bernard Peissel
  • Monica Barile
  • Liliana Varesco
  • Mirko Riboni
  • Stefano Fortuzzi
  • Siranoush Manoukian
  • Paolo Radice
Letter to the Editor

Keywords

PAB2 Familial breast cancer Breast cancer risk Pancreatic cancer risk Truncating mutation CRC 

Notes

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’).

References

  1. 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 39:165–167PubMedCrossRefGoogle Scholar
  2. 2.
    Stratton MR, Rahman N (2008) The emerging landscape of breast cancer susceptibility. Nat Genet 40:17–22PubMedCrossRefGoogle Scholar
  3. 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 113:545–551PubMedCrossRefGoogle Scholar
  4. 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 114:457–462PubMedCrossRefGoogle Scholar
  5. 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 9:181–185PubMedCrossRefGoogle Scholar
  6. 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 4:531–536CrossRefGoogle Scholar
  7. 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 446:316–319PubMedCrossRefGoogle Scholar
  8. 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 11:20PubMedCrossRefGoogle Scholar
  9. 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 76:421–426PubMedCrossRefGoogle Scholar
  10. 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 324:217PubMedCrossRefGoogle Scholar
  11. 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 137:1183–1186PubMedCrossRefGoogle Scholar
  12. 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 43:601–606PubMedCrossRefGoogle Scholar
  13. 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 10:208PubMedCrossRefGoogle Scholar
  14. 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 78:490–494PubMedCrossRefGoogle Scholar
  15. 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:R83PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC. 2010

Authors and Affiliations

  • Paolo Peterlongo
    • 1
    • 2
  • Irene Catucci
    • 1
    • 2
  • Graziella Pasquini
    • 2
  • Paolo Verderio
    • 3
  • Bernard Peissel
    • 4
  • Monica Barile
    • 5
  • Liliana Varesco
    • 6
  • Mirko Riboni
    • 1
  • Stefano Fortuzzi
    • 7
  • Siranoush Manoukian
    • 4
  • Paolo Radice
    • 1
    • 2
  1. 1.IFOM, Fondazione Istituto FIRC di Oncologia MolecolareMilanItaly
  2. 2.Department of Preventive and Predictive Medicine, Unit of Molecular Bases of Genetic Risk and Genetic TestingFondazione IRCCS Istituto Nazionale dei TumoriMilanItaly
  3. 3.Unit of Medical Statistics and BiometryFondazione IRCCS Istituto Nazionale dei TumoriMilanItaly
  4. 4.Department of Preventive and Predictive Medicine, Unit of Medical GeneticsFondazione IRCCS Istituto Nazionale dei TumoriMilanItaly
  5. 5.Division of Cancer Prevention and GeneticsIstituto Europeo di OncologiaMilanItaly
  6. 6.Unit of Hereditary CancersIstituto Nazionale per la Ricerca sul CancroGenoaItaly
  7. 7.Cogentech, Consortium for Genomic TechnologiesMilanItaly

Personalised recommendations