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

Hdl Handle:
http://hdl.handle.net/10147/207112
Title:
Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas.
Authors:
Gray, Sarah E; Kay, Elaine W; Leader, Mary; Mabruk, Mohamed
Affiliation:
Pathology Department, Royal College of Surgeons in Ireland and Beaumont Hospital,, Dublin, Ireland.
Citation:
Cancer Genomics Proteomics. 2011 May-Jun;8(3):149-55.
Journal:
Cancer genomics & proteomics
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207112
PubMed ID:
21518821
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.
Language:
eng
MeSH:
Adenomatous Polyposis Coli Protein/*genetics/metabolism; *Alleles; Base Sequence; Carcinoma, Squamous Cell/*genetics; DNA Primers; Humans; Immunohistochemistry; *Loss of Heterozygosity; Polymerase Chain Reaction; Skin Neoplasms/*genetics
ISSN:
1790-6245 (Electronic); 1109-6535 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorGray, Sarah Een_GB
dc.contributor.authorKay, Elaine Wen_GB
dc.contributor.authorLeader, Maryen_GB
dc.contributor.authorMabruk, Mohameden_GB
dc.date.accessioned2012-02-01T09:59:31Z-
dc.date.available2012-02-01T09:59:31Z-
dc.date.issued2012-02-01T09:59:31Z-
dc.identifier.citationCancer Genomics Proteomics. 2011 May-Jun;8(3):149-55.en_GB
dc.identifier.issn1790-6245 (Electronic)en_GB
dc.identifier.issn1109-6535 (Linking)en_GB
dc.identifier.pmid21518821en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207112-
dc.description.abstractBACKGROUND: 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdenomatous Polyposis Coli Protein/*genetics/metabolismen_GB
dc.subject.mesh*Allelesen_GB
dc.subject.meshBase Sequenceen_GB
dc.subject.meshCarcinoma, Squamous Cell/*geneticsen_GB
dc.subject.meshDNA Primersen_GB
dc.subject.meshHumansen_GB
dc.subject.meshImmunohistochemistryen_GB
dc.subject.mesh*Loss of Heterozygosityen_GB
dc.subject.meshPolymerase Chain Reactionen_GB
dc.subject.meshSkin Neoplasms/*geneticsen_GB
dc.titleAnalysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas.en_GB
dc.contributor.departmentPathology Department, Royal College of Surgeons in Ireland and Beaumont Hospital,, Dublin, Ireland.en_GB
dc.identifier.journalCancer genomics & proteomicsen_GB
dc.description.provinceLeinster-
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