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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

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 PA...

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Autores principales: Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A., Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720732/
https://www.ncbi.nlm.nih.gov/pubmed/23935836
http://dx.doi.org/10.1371/journal.pone.0067538
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author Blanco, Ana
de la Hoya, Miguel
Osorio, Ana
Diez, Orland
Miramar, María Dolores
Infante, Mar
Martinez-Bouzas, Cristina
Torres, Asunción
Lasa, Adriana
Llort, Gemma
Brunet, Joan
Graña, Begoña
Perez Segura, Pedro
Garcia, María José
Gutiérrez-Enríquez, Sara
Carracedo, Ángel
Tejada, María-Isabel
Velasco, Eladio A.
Calvo, María-Teresa
Balmaña, Judith
Benitez, Javier
Caldés, Trinidad
Vega, Ana
author_facet Blanco, Ana
de la Hoya, Miguel
Osorio, Ana
Diez, Orland
Miramar, María Dolores
Infante, Mar
Martinez-Bouzas, Cristina
Torres, Asunción
Lasa, Adriana
Llort, Gemma
Brunet, Joan
Graña, Begoña
Perez Segura, Pedro
Garcia, María José
Gutiérrez-Enríquez, Sara
Carracedo, Ángel
Tejada, María-Isabel
Velasco, Eladio A.
Calvo, María-Teresa
Balmaña, Judith
Benitez, Javier
Caldés, Trinidad
Vega, Ana
author_sort Blanco, Ana
collection PubMed
description 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.
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spelling pubmed-37207322013-08-09 Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases Blanco, Ana de la Hoya, Miguel Osorio, Ana Diez, Orland Miramar, María Dolores Infante, Mar Martinez-Bouzas, Cristina Torres, Asunción Lasa, Adriana Llort, Gemma Brunet, Joan Graña, Begoña Perez Segura, Pedro Garcia, María José Gutiérrez-Enríquez, Sara Carracedo, Ángel Tejada, María-Isabel Velasco, Eladio A. Calvo, María-Teresa Balmaña, Judith Benitez, Javier Caldés, Trinidad Vega, Ana PLoS One Research Article 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. Public Library of Science 2013-07-23 /pmc/articles/PMC3720732/ /pubmed/23935836 http://dx.doi.org/10.1371/journal.pone.0067538 Text en © 2013 Blanco et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Blanco, Ana
de la Hoya, Miguel
Osorio, Ana
Diez, Orland
Miramar, María Dolores
Infante, Mar
Martinez-Bouzas, Cristina
Torres, Asunción
Lasa, Adriana
Llort, Gemma
Brunet, Joan
Graña, Begoña
Perez Segura, Pedro
Garcia, María José
Gutiérrez-Enríquez, Sara
Carracedo, Ángel
Tejada, María-Isabel
Velasco, Eladio A.
Calvo, María-Teresa
Balmaña, Judith
Benitez, Javier
Caldés, Trinidad
Vega, Ana
Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
title Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
title_full Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
title_fullStr Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
title_full_unstemmed Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
title_short Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
title_sort analysis of palb2 gene in brca1/brca2 negative spanish hereditary breast/ovarian cancer families with pancreatic cancer cases
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720732/
https://www.ncbi.nlm.nih.gov/pubmed/23935836
http://dx.doi.org/10.1371/journal.pone.0067538
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