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APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis.
Br J Cancer. 2000 Jan; 82(2):348-53.BJ

Abstract

Correlations between germline APC mutation sites and colorectal pathophenotypes, as evaluated by the direct count of adenomas at colectomy, were investigated analysing colectomy specimens from 29 FAP patients carrying one mis-sense (codon 208) and 14 frame-shift or non-sense APC mutations (codons 232, 367, 437, 623, 876, 995, 1061, 1068, 1075, 1112, 1114, 1309, 1324, 1556). The mis-sense mutation at codon 208 was associated with a relatively mild colorectal pathophenotype. The mutation at codon 367, subject to alternative splicing, was associated with attenuated FAP. The mutation at codon 1309 was associated with the profuse colorectal adenomatosis. For 13 mutations, predicted to result in null alleles or truncated APC proteins, we correlated density and distribution of colorectal adenomas with the predicted functional effects of the mutation. The most severe colorectal pathophenotype was significantly associated with the truncating mutation at codon 1309, which is located downstream to the I beta-catenin binding domain but upstream II beta-catenin-binding domain. Mutations between codons 867 and 1114, which affect the I beta-catenin binding domain, as well as mutations occurring in exons 6 and 9, predicted to result in null alleles, were associated with a less severe colorectal pathophenotype. Overall, the highest number of adenomas was detected in the right colon, followed by the left colon, transverse colon sigma and rectum. However, the highest density of adenomas was observed in the left colon, followed by the right colon, sigma, transverse colon and rectum. Colorectal carcinomas, observed in only five patients, were all in the left colon.

Authors+Show Affiliations

Department of Clinical Physiopathology, University of Florence, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

10646887

Citation

Ficari, F, et al. "APC Gene Mutations and Colorectal Adenomatosis in Familial Adenomatous Polyposis." British Journal of Cancer, vol. 82, no. 2, 2000, pp. 348-53.
Ficari F, Cama A, Valanzano R, et al. APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. Br J Cancer. 2000;82(2):348-53.
Ficari, F., Cama, A., Valanzano, R., Curia, M. C., Palmirotta, R., Aceto, G., Esposito, D. L., Crognale, S., Lombardi, A., Messerini, L., Mariani-Costantini, R., Tonelli, F., & Battista, P. (2000). APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. British Journal of Cancer, 82(2), 348-53.
Ficari F, et al. APC Gene Mutations and Colorectal Adenomatosis in Familial Adenomatous Polyposis. Br J Cancer. 2000;82(2):348-53. PubMed PMID: 10646887.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. AU - Ficari,F, AU - Cama,A, AU - Valanzano,R, AU - Curia,M C, AU - Palmirotta,R, AU - Aceto,G, AU - Esposito,D L, AU - Crognale,S, AU - Lombardi,A, AU - Messerini,L, AU - Mariani-Costantini,R, AU - Tonelli,F, AU - Battista,P, PY - 2000/1/26/pubmed PY - 2000/1/26/medline PY - 2000/1/26/entrez SP - 348 EP - 53 JF - British journal of cancer JO - Br. J. Cancer VL - 82 IS - 2 N2 - Correlations between germline APC mutation sites and colorectal pathophenotypes, as evaluated by the direct count of adenomas at colectomy, were investigated analysing colectomy specimens from 29 FAP patients carrying one mis-sense (codon 208) and 14 frame-shift or non-sense APC mutations (codons 232, 367, 437, 623, 876, 995, 1061, 1068, 1075, 1112, 1114, 1309, 1324, 1556). The mis-sense mutation at codon 208 was associated with a relatively mild colorectal pathophenotype. The mutation at codon 367, subject to alternative splicing, was associated with attenuated FAP. The mutation at codon 1309 was associated with the profuse colorectal adenomatosis. For 13 mutations, predicted to result in null alleles or truncated APC proteins, we correlated density and distribution of colorectal adenomas with the predicted functional effects of the mutation. The most severe colorectal pathophenotype was significantly associated with the truncating mutation at codon 1309, which is located downstream to the I beta-catenin binding domain but upstream II beta-catenin-binding domain. Mutations between codons 867 and 1114, which affect the I beta-catenin binding domain, as well as mutations occurring in exons 6 and 9, predicted to result in null alleles, were associated with a less severe colorectal pathophenotype. Overall, the highest number of adenomas was detected in the right colon, followed by the left colon, transverse colon sigma and rectum. However, the highest density of adenomas was observed in the left colon, followed by the right colon, sigma, transverse colon and rectum. Colorectal carcinomas, observed in only five patients, were all in the left colon. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/10646887/APC_gene_mutations_and_colorectal_adenomatosis_in_familial_adenomatous_polyposis_ L2 - http://dx.doi.org/10.1054/bjoc.1999.0925 DB - PRIME DP - Unbound Medicine ER -