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HABP2 p.G534E variant in patients with family history of thyroid and breast cancer
Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) rev...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522276/ https://www.ncbi.nlm.nih.gov/pubmed/28402931 http://dx.doi.org/10.18632/oncotarget.16639 |
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author | Pinheiro, Maisa Drigo, Sandra Aparecida Tonhosolo, Renata Andrade, Sonia C.S. Marchi, Fabio Albuquerque Jurisica, Igor Kowalski, Luiz Paulo Achatz, Maria Isabel Rogatto, Silvia Regina |
author_facet | Pinheiro, Maisa Drigo, Sandra Aparecida Tonhosolo, Renata Andrade, Sonia C.S. Marchi, Fabio Albuquerque Jurisica, Igor Kowalski, Luiz Paulo Achatz, Maria Isabel Rogatto, Silvia Regina |
author_sort | Pinheiro, Maisa |
collection | PubMed |
description | Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative for the variant. Although the proband of the F3 with PTC was HABP2 wild type, three relatives presented the variant. Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E. These findings suggested no association of this variant with our familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes have pathogenic effects in the risk of familial PTC development. |
format | Online Article Text |
id | pubmed-5522276 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Impact Journals LLC |
record_format | MEDLINE/PubMed |
spelling | pubmed-55222762017-08-21 HABP2 p.G534E variant in patients with family history of thyroid and breast cancer Pinheiro, Maisa Drigo, Sandra Aparecida Tonhosolo, Renata Andrade, Sonia C.S. Marchi, Fabio Albuquerque Jurisica, Igor Kowalski, Luiz Paulo Achatz, Maria Isabel Rogatto, Silvia Regina Oncotarget Research Paper Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative for the variant. Although the proband of the F3 with PTC was HABP2 wild type, three relatives presented the variant. Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E. These findings suggested no association of this variant with our familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes have pathogenic effects in the risk of familial PTC development. Impact Journals LLC 2017-03-29 /pmc/articles/PMC5522276/ /pubmed/28402931 http://dx.doi.org/10.18632/oncotarget.16639 Text en Copyright: © 2017 Pinheiro et al. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (http://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Paper Pinheiro, Maisa Drigo, Sandra Aparecida Tonhosolo, Renata Andrade, Sonia C.S. Marchi, Fabio Albuquerque Jurisica, Igor Kowalski, Luiz Paulo Achatz, Maria Isabel Rogatto, Silvia Regina HABP2 p.G534E variant in patients with family history of thyroid and breast cancer |
title | HABP2 p.G534E variant in patients with family history of thyroid and breast cancer |
title_full | HABP2 p.G534E variant in patients with family history of thyroid and breast cancer |
title_fullStr | HABP2 p.G534E variant in patients with family history of thyroid and breast cancer |
title_full_unstemmed | HABP2 p.G534E variant in patients with family history of thyroid and breast cancer |
title_short | HABP2 p.G534E variant in patients with family history of thyroid and breast cancer |
title_sort | habp2 p.g534e variant in patients with family history of thyroid and breast cancer |
topic | Research Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522276/ https://www.ncbi.nlm.nih.gov/pubmed/28402931 http://dx.doi.org/10.18632/oncotarget.16639 |
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