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APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients.
Eur J Hum Genet. 2000 Jan; 8(1):42-8.EJ

Abstract

Familial adenomatous polyposis (FAP) is a familial form of colon cancer caused by mutation of the adenomatous polyposis coli (APC) gene. Although the APC gene has been extensively studied in the Caucasian population, it has not been previously described in the Chinese population. In the present study, we investigated APC mutation and phenotypic spectrum in the Singapore FAP families who are predominantly Chinese. The protein truncation test (PTT) was used to screen the entire APC gene for germline mutations in 28 unrelated families. Fifteen different mutations were identified in 22 families. Eight mutations were 1-11 basepair deletions or insertions; three involved deletions of whole exons and four were nonsense mutations. Nine of the mutations, including two complex rearrangements, are novel. Eight families including three de novo cases have the same (AAAGA) deletion at codon 1309, indicating that like the Western families, codon 1309 is also the mutation 'hot spot' for Singapore FAP families. In contrast, we did not find any mutation in codon 1061, the second hot spot for the Western population. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is consistently associated with the prescribed domain (codons 463 to 1387) and is the only phenotype with no intra-family variation. Other than CHRPE, differences in the type and frequency of extracolonic manifestations within the FAP families suggest the influence of modifying genes and environmental factors.

Authors+Show Affiliations

Department of Colorectal Surgery, Singapore General Hospital, Republic of Singapore.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10713886

Citation

Cao, X, et al. "APC Mutation and Phenotypic Spectrum of Singapore Familial Adenomatous Polyposis Patients." European Journal of Human Genetics : EJHG, vol. 8, no. 1, 2000, pp. 42-8.
Cao X, Eu KW, Seow-Choen F, et al. APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. Eur J Hum Genet. 2000;8(1):42-8.
Cao, X., Eu, K. W., Seow-Choen, F., Zao, Y., & Cheah, P. Y. (2000). APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. European Journal of Human Genetics : EJHG, 8(1), 42-8.
Cao X, et al. APC Mutation and Phenotypic Spectrum of Singapore Familial Adenomatous Polyposis Patients. Eur J Hum Genet. 2000;8(1):42-8. PubMed PMID: 10713886.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. AU - Cao,X, AU - Eu,K W, AU - Seow-Choen,F, AU - Zao,Y, AU - Cheah,P Y, PY - 2000/3/14/pubmed PY - 2000/4/25/medline PY - 2000/3/14/entrez SP - 42 EP - 8 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 8 IS - 1 N2 - Familial adenomatous polyposis (FAP) is a familial form of colon cancer caused by mutation of the adenomatous polyposis coli (APC) gene. Although the APC gene has been extensively studied in the Caucasian population, it has not been previously described in the Chinese population. In the present study, we investigated APC mutation and phenotypic spectrum in the Singapore FAP families who are predominantly Chinese. The protein truncation test (PTT) was used to screen the entire APC gene for germline mutations in 28 unrelated families. Fifteen different mutations were identified in 22 families. Eight mutations were 1-11 basepair deletions or insertions; three involved deletions of whole exons and four were nonsense mutations. Nine of the mutations, including two complex rearrangements, are novel. Eight families including three de novo cases have the same (AAAGA) deletion at codon 1309, indicating that like the Western families, codon 1309 is also the mutation 'hot spot' for Singapore FAP families. In contrast, we did not find any mutation in codon 1061, the second hot spot for the Western population. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is consistently associated with the prescribed domain (codons 463 to 1387) and is the only phenotype with no intra-family variation. Other than CHRPE, differences in the type and frequency of extracolonic manifestations within the FAP families suggest the influence of modifying genes and environmental factors. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/10713886/APC_mutation_and_phenotypic_spectrum_of_Singapore_familial_adenomatous_polyposis_patients_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -