Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
<h4>Background</h4>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 t...
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oai:doaj.org-article:e986509c5ef547abb3c3fe9c26d955252021-11-18T09:03:25ZAnalysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.1932-620310.1371/journal.pone.0067538https://doaj.org/article/e986509c5ef547abb3c3fe9c26d955252013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23935836/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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%.<h4>Conclusions</h4>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.Ana BlancoMiguel de la HoyaAna OsorioOrland DiezMaría Dolores MiramarMar InfanteCristina Martinez-BouzasAsunción TorresAdriana LasaGemma LlortJoan BrunetBegoña GrañaPedro Perez SeguraMaría José GarciaSara Gutiérrez-EnríquezÁngel CarracedoMaría-Isabel TejadaEladio A VelascoMaría-Teresa CalvoJudith BalmañaJavier BenitezTrinidad CaldésAna VegaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 7, p e67538 (2013) |
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Medicine R Science Q Ana Blanco Miguel de la Hoya Ana Osorio Orland Diez María Dolores Miramar Mar Infante Cristina Martinez-Bouzas Asunción Torres Adriana Lasa Gemma Llort Joan Brunet Begoña Graña Pedro Perez Segura María José Garcia Sara Gutiérrez-Enríquez Ángel Carracedo María-Isabel Tejada Eladio A Velasco María-Teresa Calvo Judith Balmaña Javier Benitez Trinidad Caldés Ana Vega Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. |
| description |
<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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%.<h4>Conclusions</h4>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. |
| format |
article |
| author |
Ana Blanco Miguel de la Hoya Ana Osorio Orland Diez María Dolores Miramar Mar Infante Cristina Martinez-Bouzas Asunción Torres Adriana Lasa Gemma Llort Joan Brunet Begoña Graña Pedro Perez Segura María José Garcia Sara Gutiérrez-Enríquez Ángel Carracedo María-Isabel Tejada Eladio A Velasco María-Teresa Calvo Judith Balmaña Javier Benitez Trinidad Caldés Ana Vega |
| author_facet |
Ana Blanco Miguel de la Hoya Ana Osorio Orland Diez María Dolores Miramar Mar Infante Cristina Martinez-Bouzas Asunción Torres Adriana Lasa Gemma Llort Joan Brunet Begoña Graña Pedro Perez Segura María José Garcia Sara Gutiérrez-Enríquez Ángel Carracedo María-Isabel Tejada Eladio A Velasco María-Teresa Calvo Judith Balmaña Javier Benitez Trinidad Caldés Ana Vega |
| author_sort |
Ana Blanco |
| title |
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_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_sort |
analysis of palb2 gene in brca1/brca2 negative spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/e986509c5ef547abb3c3fe9c26d95525 |
| work_keys_str_mv |
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