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Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP).
Hum Mutat. 1994; 4(4):253-6.HM

Abstract

Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline DNA of 81 unrelated FAP patients and evaluated correlation of APC mutation genotype and clinical phenotype. Germline APC mutations were identified in 18 FAP patients including two novel 2 bp deletions at APC codons 1067 and 1259. FAP patients were screened for hypertrophic ocular fundus lesions, desmoids and peri-ampullary adenomas. As reported previously (Olshwang et al 1993b), a positive correlation for the frequency of retinal lesions and germline APC mutation was observed among all FAP patients except one. No significant correlation was observed for APC mutation genotype and the occurrence of desmoids and peri-ampullary adenomas. Genetic factors contributing to familial segregation of these lesions need further investigation.

Authors+Show Affiliations

Steven Atanas Stavro FAP Registry, Mount Sinai Hospital, Samuel Lunenfeld Research Institute, University of Toronto, Canada.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

7866403

Citation

Bapat, B, et al. "Characterization of Two Novel Adenomatous Polyposis Coli (APC) Gene Mutations in Patients With Familial Adenomatous Polyposis (FAP)." Human Mutation, vol. 4, no. 4, 1994, pp. 253-6.
Bapat B, Berk T, Mitri A, et al. Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP). Hum Mutat. 1994;4(4):253-6.
Bapat, B., Berk, T., Mitri, A., Cohen, Z., Gallinger, S., & Stern, H. (1994). Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP). Human Mutation, 4(4), 253-6.
Bapat B, et al. Characterization of Two Novel Adenomatous Polyposis Coli (APC) Gene Mutations in Patients With Familial Adenomatous Polyposis (FAP). Hum Mutat. 1994;4(4):253-6. PubMed PMID: 7866403.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP). AU - Bapat,B, AU - Berk,T, AU - Mitri,A, AU - Cohen,Z, AU - Gallinger,S, AU - Stern,H, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 253 EP - 6 JF - Human mutation JO - Hum Mutat VL - 4 IS - 4 N2 - Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline DNA of 81 unrelated FAP patients and evaluated correlation of APC mutation genotype and clinical phenotype. Germline APC mutations were identified in 18 FAP patients including two novel 2 bp deletions at APC codons 1067 and 1259. FAP patients were screened for hypertrophic ocular fundus lesions, desmoids and peri-ampullary adenomas. As reported previously (Olshwang et al 1993b), a positive correlation for the frequency of retinal lesions and germline APC mutation was observed among all FAP patients except one. No significant correlation was observed for APC mutation genotype and the occurrence of desmoids and peri-ampullary adenomas. Genetic factors contributing to familial segregation of these lesions need further investigation. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/7866403/Characterization_of_two_novel_adenomatous_polyposis_coli__APC__gene_mutations_in_patients_with_familial_adenomatous_polyposis__FAP__ L2 - https://doi.org/10.1002/humu.1380040404 DB - PRIME DP - Unbound Medicine ER -