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Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand

Germline carriers of pathogenic variants in cancer susceptibility genes are at an increased risk of breast cancer (BC). We characterized germline variants in a cohort of 151 patients diagnosed with epithelial BC in the southernmost region of Thailand, where the predominant ethnicity differs from tha...

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Autores principales: Sukpan, Panupong, Sangkhathat, Surasak, Sriplung, Hutcha, Laochareonsuk, Wison, Choochuen, Pongsakorn, Auseng, Nasuha, Khoonjan, Weerawan, Salaeh, Rusta, Thangnaphadol, Kornchanok, Wanawanakorn, Kasemsun, Kanokwiroon, Kanyanatt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672121/
https://www.ncbi.nlm.nih.gov/pubmed/38003901
http://dx.doi.org/10.3390/jpm13111587
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author Sukpan, Panupong
Sangkhathat, Surasak
Sriplung, Hutcha
Laochareonsuk, Wison
Choochuen, Pongsakorn
Auseng, Nasuha
Khoonjan, Weerawan
Salaeh, Rusta
Thangnaphadol, Kornchanok
Wanawanakorn, Kasemsun
Kanokwiroon, Kanyanatt
author_facet Sukpan, Panupong
Sangkhathat, Surasak
Sriplung, Hutcha
Laochareonsuk, Wison
Choochuen, Pongsakorn
Auseng, Nasuha
Khoonjan, Weerawan
Salaeh, Rusta
Thangnaphadol, Kornchanok
Wanawanakorn, Kasemsun
Kanokwiroon, Kanyanatt
author_sort Sukpan, Panupong
collection PubMed
description Germline carriers of pathogenic variants in cancer susceptibility genes are at an increased risk of breast cancer (BC). We characterized germline variants in a cohort of 151 patients diagnosed with epithelial BC in the southernmost region of Thailand, where the predominant ethnicity differs from that of the rest of the country. Whole exome sequencing was used to identify and subsequently filter variants present in 26 genes known to be associated with cancer predisposition. Of the 151 individuals assessed, 23, corresponding to 15.2% of the sample, exhibited the presence of one or more pathogenic or likely pathogenic variants associated with BC susceptibility. We identified novel germline truncating variants in BRIP1, CHEK2, MSH6, PALB2, and PTEN and annotated variants of uncertain significance (VUSs), both novel and previously documented. Therefore, it is advisable to use genetic testing as an additional risk screening method for BC in this area.
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spelling pubmed-106721212023-11-09 Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand Sukpan, Panupong Sangkhathat, Surasak Sriplung, Hutcha Laochareonsuk, Wison Choochuen, Pongsakorn Auseng, Nasuha Khoonjan, Weerawan Salaeh, Rusta Thangnaphadol, Kornchanok Wanawanakorn, Kasemsun Kanokwiroon, Kanyanatt J Pers Med Article Germline carriers of pathogenic variants in cancer susceptibility genes are at an increased risk of breast cancer (BC). We characterized germline variants in a cohort of 151 patients diagnosed with epithelial BC in the southernmost region of Thailand, where the predominant ethnicity differs from that of the rest of the country. Whole exome sequencing was used to identify and subsequently filter variants present in 26 genes known to be associated with cancer predisposition. Of the 151 individuals assessed, 23, corresponding to 15.2% of the sample, exhibited the presence of one or more pathogenic or likely pathogenic variants associated with BC susceptibility. We identified novel germline truncating variants in BRIP1, CHEK2, MSH6, PALB2, and PTEN and annotated variants of uncertain significance (VUSs), both novel and previously documented. Therefore, it is advisable to use genetic testing as an additional risk screening method for BC in this area. MDPI 2023-11-09 /pmc/articles/PMC10672121/ /pubmed/38003901 http://dx.doi.org/10.3390/jpm13111587 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Sukpan, Panupong
Sangkhathat, Surasak
Sriplung, Hutcha
Laochareonsuk, Wison
Choochuen, Pongsakorn
Auseng, Nasuha
Khoonjan, Weerawan
Salaeh, Rusta
Thangnaphadol, Kornchanok
Wanawanakorn, Kasemsun
Kanokwiroon, Kanyanatt
Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand
title Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand
title_full Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand
title_fullStr Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand
title_full_unstemmed Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand
title_short Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand
title_sort exome sequencing reveals novel germline variants in breast cancer patients in the southernmost region of thailand
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672121/
https://www.ncbi.nlm.nih.gov/pubmed/38003901
http://dx.doi.org/10.3390/jpm13111587
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