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dc.contributor.authorGraña Suárez, Begoña 
dc.contributor.authorVega Gliemmo, Ana
dc.contributor.authorCarracedo Álvarez, Ángel
dc.contributor.authorBlanco Pérez, Ana
dc.date.accessioned2017-06-07T07:01:20Z
dc.date.available2017-06-07T07:01:20Z
dc.date.issued2013
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/20.500.11940/1754
dc.description.abstractBackground: 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.
dc.language.isoeng
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshBRCA1 Protein
dc.subject.meshBreast Neoplasms
dc.subject.meshNuclear Proteins
dc.subject.meshPancreatic Neoplasms
dc.subject.meshTumor Suppressor Proteins
dc.titleAnalysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
dc.typeArtigoes
dc.authorsophosBlanco, A.
dc.authorsophosde la Hoya, M.
dc.authorsophosOsorio, A.
dc.authorsophosDiez, O.
dc.authorsophosMiramar, M. D.
dc.authorsophosInfante, M.
dc.authorsophosMartinez-Bouzas, C.
dc.authorsophosTorres, A.
dc.authorsophosLasa, A.
dc.authorsophosLlort, G.
dc.authorsophosBrunet, J.
dc.authorsophosGraña, B.
dc.authorsophosPerez Segura, P.
dc.authorsophosGarcia, M. J.
dc.authorsophosGutiérrez-Enríquez, S.
dc.authorsophosCarracedo, Á
dc.authorsophosTejada, M. I.
dc.authorsophosVelasco, E. A.
dc.authorsophosCalvo, M. T.
dc.authorsophosBalmaña, J.
dc.authorsophosBenitez, J.
dc.authorsophosCaldés, T.
dc.authorsophosVega, A.
dc.identifier.doi10.1371/journal.pone.0067538
dc.identifier.isi325211000013
dc.identifier.pmid23935836
dc.identifier.sophos12187
dc.issue.number7
dc.journal.titlePLoS One
dc.organizationConsellería de Sanidade::Fundación pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Ferrol::Xerencia da Área de Ferrol::Oncoloxía médica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago::IDIS.- Instituto de investigaciones sanitarias de Santiago
dc.rights.accessRightsopenAccess
dc.subject.decsProteína BRCA1
dc.subject.decsNeoplasias de la Mama
dc.subject.decsProteínas Nucleares
dc.subject.decsNeoplasias Pancreáticas
dc.subject.decsProteínas Supresoras de Tumor
dc.typesophosArtículo Original
dc.volume.number8


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