Top

Published in:

01-04-2011 | Letter to the Editor

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

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

Published in: Breast Cancer Research and Treatment | Issue 3/2011

Excerpt

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

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 324:217PubMedCrossRef

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 137:1183–1186PubMedCrossRef

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 43:601–606PubMedCrossRef

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 10:208PubMedCrossRef

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 78:490–494PubMedCrossRef

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

Title: PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer
Authors: Paolo Peterlongo
Irene Catucci
Graziella Pasquini
Paolo Verderio
Bernard Peissel
Monica Barile
Liliana Varesco
Mirko Riboni
Stefano Fortuzzi
Siranoush Manoukian
Paolo Radice
Publication date: 01-04-2011
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 3/2011
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-010-1305-1

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 3/2011

Involvement of PKC delta (PKCδ) in the resistance against different doxorubicin analogs

Lymph node ratio, number of excised nodes and sentinel-node concepts in breast cancer

Polymorphisms of tumor necrosis factor-alpha and breast cancer risk: a meta-analysis

Paraneoplastic polymyositis associated with breast cancer: a therapeutic emergency

Validating the meta-analytical results on MDM2, CASP8, XRCC3 polymorphisms and breast cancer risk: examination of Hardy–Weinberg Equilibrium

Concurrent use of tamoxifen with CYP2D6 inhibitors and the risk of breast cancer recurrence

Keynote webinar | Spotlight on antibody–drug conjugates in cancer