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01.04.2011 | Letter to the Editor

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

verfasst von: Paolo Peterlongo, Irene Catucci, Graziella Pasquini, Paolo Verderio, Bernard Peissel, Monica Barile, Liliana Varesco, Mirko Riboni, Stefano Fortuzzi, Siranoush Manoukian, Paolo Radice

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 3/2011

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To the Editor …

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 39:165–167PubMedCrossRef

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

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 113:545–551PubMedCrossRef

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 114:457–462PubMedCrossRef

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 9:181–185PubMedCrossRef

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 4:531–536CrossRef

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 446:316–319PubMedCrossRef

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 11:20PubMedCrossRef

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 76:421–426PubMedCrossRef

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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 324:217PubMedCrossRef

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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 137:1183–1186PubMedCrossRef

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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 43:601–606PubMedCrossRef

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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 10:208PubMedCrossRef

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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 78:490–494PubMedCrossRef

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:R83PubMedCrossRef

Titel: PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer
verfasst von: Paolo Peterlongo
Irene Catucci
Graziella Pasquini
Paolo Verderio
Bernard Peissel
Monica Barile
Liliana Varesco
Mirko Riboni
Stefano Fortuzzi
Siranoush Manoukian
Paolo Radice
Publikationsdatum: 01.04.2011
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 3/2011
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-010-1305-1

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