Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas

Oral squamous cell carcinoma (OSCC) is a common subtype of head and neck squamous cell carcinoma (HNSCC), but the pathogenesis underlying familial OSCCs is unknown. Here, we analyzed whole-genome sequences of a family with autosomal dominant expression of oral tongue cancer and identified proto-onco...

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Autores principales: Huang, Yaping, Zhao, Jizhi, Mao, Guogen, Lee, Grace Sanghee, Zhang, Jia, Bi, Lijun, Gu, Liya, Chang, Zhijie, Valentino, Joseph, Li, Guo-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877579/
https://www.ncbi.nlm.nih.gov/pubmed/31798960
http://dx.doi.org/10.1038/s41421-019-0126-6
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author Huang, Yaping
Zhao, Jizhi
Mao, Guogen
Lee, Grace Sanghee
Zhang, Jia
Bi, Lijun
Gu, Liya
Chang, Zhijie
Valentino, Joseph
Li, Guo-Min
author_facet Huang, Yaping
Zhao, Jizhi
Mao, Guogen
Lee, Grace Sanghee
Zhang, Jia
Bi, Lijun
Gu, Liya
Chang, Zhijie
Valentino, Joseph
Li, Guo-Min
author_sort Huang, Yaping
collection PubMed
description Oral squamous cell carcinoma (OSCC) is a common subtype of head and neck squamous cell carcinoma (HNSCC), but the pathogenesis underlying familial OSCCs is unknown. Here, we analyzed whole-genome sequences of a family with autosomal dominant expression of oral tongue cancer and identified proto-oncogenes VAV2 and IQGAP1 as the primary factors responsible for oral cancer in the family. These two genes are also frequently mutated in sporadic OSCCs and HNSCCs. Functional analysis revealed that the detrimental variants target tumorigenesis-associated pathways, thus confirming that these novel genetic variants help to establish a predisposition to familial OSCC.
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spelling pubmed-68775792019-12-03 Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas Huang, Yaping Zhao, Jizhi Mao, Guogen Lee, Grace Sanghee Zhang, Jia Bi, Lijun Gu, Liya Chang, Zhijie Valentino, Joseph Li, Guo-Min Cell Discov Article Oral squamous cell carcinoma (OSCC) is a common subtype of head and neck squamous cell carcinoma (HNSCC), but the pathogenesis underlying familial OSCCs is unknown. Here, we analyzed whole-genome sequences of a family with autosomal dominant expression of oral tongue cancer and identified proto-oncogenes VAV2 and IQGAP1 as the primary factors responsible for oral cancer in the family. These two genes are also frequently mutated in sporadic OSCCs and HNSCCs. Functional analysis revealed that the detrimental variants target tumorigenesis-associated pathways, thus confirming that these novel genetic variants help to establish a predisposition to familial OSCC. Nature Publishing Group UK 2019-11-26 /pmc/articles/PMC6877579/ /pubmed/31798960 http://dx.doi.org/10.1038/s41421-019-0126-6 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Huang, Yaping
Zhao, Jizhi
Mao, Guogen
Lee, Grace Sanghee
Zhang, Jia
Bi, Lijun
Gu, Liya
Chang, Zhijie
Valentino, Joseph
Li, Guo-Min
Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
title Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
title_full Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
title_fullStr Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
title_full_unstemmed Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
title_short Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
title_sort identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877579/
https://www.ncbi.nlm.nih.gov/pubmed/31798960
http://dx.doi.org/10.1038/s41421-019-0126-6
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