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

Yaping Huang; Jizhi Zhao; Guogen Mao; Grace Sanghee Lee; Jia Zhang; Lijun Bi; Liya Gu; Zhijie Chang; Joseph Valentino; Guo Min Li

doi:10.1038/s41421-019-0126-6

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

Yaping Huang, Jizhi Zhao, Guogen Mao, Grace Sanghee Lee, Jia Zhang, Lijun Bi, Liya Gu, Zhijie Chang, Joseph Valentino, Guo Min Li

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

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.

Original language	English
Article number	57
Journal	Cell Discovery
Volume	5
Issue number	1
DOIs	https://doi.org/10.1038/s41421-019-0126-6
State	Published - Dec 1 2019

Bibliographical note

Publisher Copyright:
© 2019, The Author(s).

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics
Cell Biology

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10.1038/s41421-019-0126-6

Cite this

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title = "Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas",

abstract = "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.",

author = "Yaping Huang and Jizhi Zhao and Guogen Mao and Lee, {Grace Sanghee} and Jia Zhang and Lijun Bi and Liya Gu and Zhijie Chang and Joseph Valentino and Li, {Guo Min}",

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AU - Huang, Yaping

AU - Zhao, Jizhi

AU - Mao, Guogen

AU - Lee, Grace Sanghee

AU - Zhang, Jia

AU - Bi, Lijun

AU - Gu, Liya

AU - Chang, Zhijie

AU - Valentino, Joseph

AU - Li, Guo Min

PY - 2019/12/1

Y1 - 2019/12/1

N2 - 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.

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

Abstract

Bibliographical note

ASJC Scopus subject areas

UN SDGs

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