Tags

Type your tag names separated by a space and hit enter

Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer.
Br J Cancer. 2001 Aug 17; 85(4):523-6.BJ

Abstract

The genetic basis for the majority of early onset or non-syndromic "familial" colorectal cancer (CRC) is unknown. Attenuated APC phenotype is characterized by relatively few colonic polyps, early age at onset of colon cancer compared with the general population, and inactivating germline mutations within specific regions of the APC gene. We hypothesized that germline mutations within these APC gene regions, might contribute to early onset or familial CRC susceptibility. To test this notion, we analysed 85 Israeli patients with either early onset (< 50 years at diagnosis) or familial CRC for harbouring mutations within the relevant APC gene regions: exons 1-5, exon 9 and a region within exon 15 (spanning nucleotides c.3900 to c.4034; codons 1294 to 1338) using denaturing gradient gel electrophoresis (DGGE), and all of exon 15 employing protein truncation test (PTT). No inactivating, disease-associated mutations were detected in any patient. A novel polymorphism in intron 5 was detected in 16 individuals, 8 patients were carriers of the 11307K variant, a mutation prevalent among Jewish individuals with colorectal cancer, and 4 displayed the E1317Q variant. We conclude that in Israeli individuals with early onset or familial CRC, truncating mutations in the APC gene regions associated with attenuated APC phenotype probably contribute little to disease pathogenesis.

Authors+Show Affiliations

The Institute of Oncology, Rabin Medical Center, Belinson Campus, Petach Tikvah, Israel.No 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

11506490

Citation

Figer, A, et al. "Genetic Analysis of the APC Gene Regions Involved in Attenuated APC Phenotype in Israeli Patients With Early Onset and Familial Colorectal Cancer." British Journal of Cancer, vol. 85, no. 4, 2001, pp. 523-6.
Figer A, Irmin L, Geva R, et al. Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer. Br J Cancer. 2001;85(4):523-6.
Figer, A., Irmin, L., Geva, R., Flex, D., Sulkes, A., & Friedman, E. (2001). Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer. British Journal of Cancer, 85(4), 523-6.
Figer A, et al. Genetic Analysis of the APC Gene Regions Involved in Attenuated APC Phenotype in Israeli Patients With Early Onset and Familial Colorectal Cancer. Br J Cancer. 2001 Aug 17;85(4):523-6. PubMed PMID: 11506490.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer. AU - Figer,A, AU - Irmin,L, AU - Geva,R, AU - Flex,D, AU - Sulkes,A, AU - Friedman,E, PY - 2001/8/17/pubmed PY - 2001/9/21/medline PY - 2001/8/17/entrez SP - 523 EP - 6 JF - British journal of cancer JO - Br. J. Cancer VL - 85 IS - 4 N2 - The genetic basis for the majority of early onset or non-syndromic "familial" colorectal cancer (CRC) is unknown. Attenuated APC phenotype is characterized by relatively few colonic polyps, early age at onset of colon cancer compared with the general population, and inactivating germline mutations within specific regions of the APC gene. We hypothesized that germline mutations within these APC gene regions, might contribute to early onset or familial CRC susceptibility. To test this notion, we analysed 85 Israeli patients with either early onset (< 50 years at diagnosis) or familial CRC for harbouring mutations within the relevant APC gene regions: exons 1-5, exon 9 and a region within exon 15 (spanning nucleotides c.3900 to c.4034; codons 1294 to 1338) using denaturing gradient gel electrophoresis (DGGE), and all of exon 15 employing protein truncation test (PTT). No inactivating, disease-associated mutations were detected in any patient. A novel polymorphism in intron 5 was detected in 16 individuals, 8 patients were carriers of the 11307K variant, a mutation prevalent among Jewish individuals with colorectal cancer, and 4 displayed the E1317Q variant. We conclude that in Israeli individuals with early onset or familial CRC, truncating mutations in the APC gene regions associated with attenuated APC phenotype probably contribute little to disease pathogenesis. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/11506490/Genetic_analysis_of_the_APC_gene_regions_involved_in_attenuated_APC_phenotype_in_Israeli_patients_with_early_onset_and_familial_colorectal_cancer_ L2 - http://dx.doi.org/10.1054/bjoc.2001.1959 DB - PRIME DP - Unbound Medicine ER -