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

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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
Volume8
Issue number3
Publication statusPublished - May 2011

Fingerprint

Adenomatous Polyposis Coli Protein
Allelic Imbalance
APC Genes
Adenomatous Polyposis Coli
Loss of Heterozygosity
Squamous Cell Carcinoma
Genes
Skin
Cells
Mutation
Inborn Genetic Diseases
Mouth Neoplasms
Endometrial Neoplasms
Epithelial Cells
Tumor Suppressor Genes
Renal Cell Carcinoma
Non-Small Cell Lung Carcinoma
Microsatellite Repeats
Colonic Neoplasms
Stomach Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas. / Gray, Sarah E.; Kay, Elaine W.; Mary, Leader; Mabruk, Mohamed.

In: Cancer Genomics and Proteomics, Vol. 8, No. 3, 05.2011, p. 149-155.

Research output: Contribution to journalArticle

@article{d65b6548a6814b7cb97eecb198b8fb35,
title = "Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas",
abstract = "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.",
keywords = "Allelic imbalance/loss of heterozygosity, APC, Cutaneous squamous cell carcinoma",
author = "Gray, {Sarah E.} and Kay, {Elaine W.} and Leader Mary and Mohamed Mabruk",
year = "2011",
month = "5",
language = "English",
volume = "8",
pages = "149--155",
journal = "Cancer Genomics and Proteomics",
issn = "1109-6535",
publisher = "International Institute of Anticancer Research",
number = "3",

}

TY - JOUR

T1 - Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas

AU - Gray, Sarah E.

AU - Kay, Elaine W.

AU - Mary, Leader

AU - Mabruk, Mohamed

PY - 2011/5

Y1 - 2011/5

N2 - 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.

AB - 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.

KW - Allelic imbalance/loss of heterozygosity

KW - APC

KW - Cutaneous squamous cell carcinoma

UR - http://www.scopus.com/inward/record.url?scp=79956367095&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79956367095&partnerID=8YFLogxK

M3 - Article

C2 - 21518821

AN - SCOPUS:79956367095

VL - 8

SP - 149

EP - 155

JO - Cancer Genomics and Proteomics

JF - Cancer Genomics and Proteomics

SN - 1109-6535

IS - 3

ER -