Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas

Sarah E. Gray, Elaine W. Kay, Leader Mary, Mohamed Mabruk*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


Background: The adenomatous polyposis coli (APC) gene is a tumor suppressor gene which is mutated in the hereditary disease, familial adenomatous polyposis (FAP). Somatic mutations of the APC gene have also been identified in the majority of sporadic colorectal carcinomas, and mutation of the APC gene appears to be an early step in the initiation of colon cancer. Loss of heterozygosity (LOH) of APC has been described in a variety of other cancer types, including renal cell carcinoma, gastric cancer, non-small cell lung cancer, endometrial cancer and oral squamous cell carcinomas (SCC). Aim: To determine the role played by APC gene in the genesis of cutaneous SCC. Materials and Methods: Allelic imbalance/loss of heterozygosity (AI/LOH) was examined in twenty-two histologically confirmed cutaneous squamous cell carcinomas (SCC) using microsatellite markers, proximal to the APC gene. Immunohistochemical analysis of APC protein expression was also examined in the cutaneous SCC. Results: AI/LOH was detected in 60% of the SCC samples using D5S346 marker (proximal to the APC gene). Ninty-five percent of the SCC samples showed positive reduced APC expression, however the localization of the APC protein was abnormal. Conclusion: The abnormal expression of APC suggests that APC gene may play a role in cutaneous SCC development.

Original languageEnglish
Pages (from-to)149-155
Number of pages7
JournalCancer Genomics and Proteomics
Issue number3
Publication statusPublished - 2011
Externally publishedYes


  • APC
  • Allelic imbalance/loss of heterozygosity
  • Cutaneous squamous cell carcinoma

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cancer Research


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