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 journalArticlepeer-review

15 Scopus citations


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 languageEnglish
Article number57
JournalCell Discovery
Issue number1
StatePublished - 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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