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Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients
The HOXB13 germline variant G84E (rs138213197) was recently described in men of European descent, with the highest prevalence in Northern Europe. The G84E mutation has not been found in patients of African or Asian ancestry, which may carry other HOXB13 variants, indicating allelic heterogeneity dep...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503425/ https://www.ncbi.nlm.nih.gov/pubmed/26176944 http://dx.doi.org/10.1371/journal.pone.0132728 |
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author | Maia, Sofia Cardoso, Marta Pinto, Pedro Pinheiro, Manuela Santos, Catarina Peixoto, Ana Bento, Maria José Oliveira, Jorge Henrique, Rui Jerónimo, Carmen Teixeira, Manuel R. |
author_facet | Maia, Sofia Cardoso, Marta Pinto, Pedro Pinheiro, Manuela Santos, Catarina Peixoto, Ana Bento, Maria José Oliveira, Jorge Henrique, Rui Jerónimo, Carmen Teixeira, Manuel R. |
author_sort | Maia, Sofia |
collection | PubMed |
description | The HOXB13 germline variant G84E (rs138213197) was recently described in men of European descent, with the highest prevalence in Northern Europe. The G84E mutation has not been found in patients of African or Asian ancestry, which may carry other HOXB13 variants, indicating allelic heterogeneity depending on the population. In order to gain insight into the full scope of coding HOXB13 mutations in Portuguese prostate cancer patients, we decided to sequence the entire coding region of the HOXB13 gene in 462 early-onset or familial/hereditary cases. Additionally, we searched for somatic HOXB13 mutations in 178 prostate carcinomas to evaluate their prevalence in prostate carcinogenesis. Three different patients were found to carry in their germline DNA two novel missense variants, which were not identified in 132 control subjects. Both variants are predicted to be deleterious by different in silico tools. No somatic mutations were found. These findings further support the hypothesis that different rare HOXB13 mutations may be found in different ethnic groups. Detection of mutations predisposing to prostate cancer may require re-sequencing rather than genotyping, as appropriate to the population under investigation. |
format | Online Article Text |
id | pubmed-4503425 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-45034252015-07-17 Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients Maia, Sofia Cardoso, Marta Pinto, Pedro Pinheiro, Manuela Santos, Catarina Peixoto, Ana Bento, Maria José Oliveira, Jorge Henrique, Rui Jerónimo, Carmen Teixeira, Manuel R. PLoS One Research Article The HOXB13 germline variant G84E (rs138213197) was recently described in men of European descent, with the highest prevalence in Northern Europe. The G84E mutation has not been found in patients of African or Asian ancestry, which may carry other HOXB13 variants, indicating allelic heterogeneity depending on the population. In order to gain insight into the full scope of coding HOXB13 mutations in Portuguese prostate cancer patients, we decided to sequence the entire coding region of the HOXB13 gene in 462 early-onset or familial/hereditary cases. Additionally, we searched for somatic HOXB13 mutations in 178 prostate carcinomas to evaluate their prevalence in prostate carcinogenesis. Three different patients were found to carry in their germline DNA two novel missense variants, which were not identified in 132 control subjects. Both variants are predicted to be deleterious by different in silico tools. No somatic mutations were found. These findings further support the hypothesis that different rare HOXB13 mutations may be found in different ethnic groups. Detection of mutations predisposing to prostate cancer may require re-sequencing rather than genotyping, as appropriate to the population under investigation. Public Library of Science 2015-07-15 /pmc/articles/PMC4503425/ /pubmed/26176944 http://dx.doi.org/10.1371/journal.pone.0132728 Text en © 2015 Maia 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 Maia, Sofia Cardoso, Marta Pinto, Pedro Pinheiro, Manuela Santos, Catarina Peixoto, Ana Bento, Maria José Oliveira, Jorge Henrique, Rui Jerónimo, Carmen Teixeira, Manuel R. Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients |
title | Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients |
title_full | Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients |
title_fullStr | Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients |
title_full_unstemmed | Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients |
title_short | Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients |
title_sort | identification of two novel hoxb13 germline mutations in portuguese prostate cancer patients |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503425/ https://www.ncbi.nlm.nih.gov/pubmed/26176944 http://dx.doi.org/10.1371/journal.pone.0132728 |
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