Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
Blanco, Ana (Universidade de Santiago de Compostela)
de la Hoya, M. (Hospital Universitario Clínico San Carlos (Madrid))
Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Diez, Orland (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Miramar, María Dolores (Hospital Universitario Miguel Servet (Saragossa))
Infante, Mar (Universidad de Valladolid)
Martinez-Bouzas, Cristina (Hospital Universitario de Cruces (Barakaldo, País Basc))
Torres, Asunción (Institut d'Investigació Sanitària Pere Virgili)
Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau)
Llort, Gemma (Institut Oncològic del Vallés)
Brunet, Joan (Institut Català d'Oncologia)
Graña, Begoña (Hospital Arquitecto Marcide)
Perez Segura, Pedro (Hospital Universitario Clínico San Carlos (Madrid))
Garcia, María José (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Gutiérrez-Enríquez, Sara (Hospital Universitari Vall d'Hebron)
Carracedo, Ángel (Universidade de Santiago de Compostela)
Tejada, María Isabel (Hospital Universitario de Cruces (Barakaldo, País Basc))
Velasco, Eladio A. (Universidad de Valladolid)
Calvo, Maria Teresa (Hospital Universitario Miguel Servet (Saragossa))
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron)
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Caldés, Trinidad (Hospital Universitario Clínico San Carlos (Madrid))
Vega, Ana (Universidade de Santiago de Compostela)

Date:	2013
Abstract:	Background: The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer. Methods: 132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification. Results: Two PALB2 truncating mutations, the c. 1653T>A (p. Tyr551Stop) previously reported, and c. 3362del (p. Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1. 5%. Conclusions: The prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required. © 2013 Blanco et al.
Grants:	Ministerio de Ciencia e Innovación 09/00859
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	PloS one, Vol. 8 Núm. 7 (23 2013) , p. e67538, ISSN 1932-6203

DOI: 10.1371/journal.pone.0067538
PMID: 23935836

8 p, 228.4 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles