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Molecular and clinical study of familial adenomatous polyposis for genetic testing and management.
J Exp Clin Cancer Res. 1999 Dec; 18(4):519-29.JE

Abstract

Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps, predominantly in the colorectal region. Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis. We examined germline mutations of the APC gene and clinical features among eighty-seven individuals who consisted of thirty-nine FAP-patients, thirty-seven of their family members with a 1 in 2 risk of predisposition to this disease, and eleven normal persons. We accurately identified nine heterozygotes, among individuals with a 1 in 2 risk by genetic testing, without the uncertainty of the recurrence risk calculated by Bayes' theorem. Six of the nine heterozygotes were confirmed to have colorectal polyps by colonoscopic examination. Since they were diagnosed at 12.7 years-of-age on average, and were no more than 20 years old, they could be treated to prevent colorectal cancer. Based on the genotype-phenotype correlation, we concluded that the germline mutations responsible for the sparse polyps phenotype of FAP-patients tend to locate from codon 1055 in the proximal region of the APC gene, while those for the profuse type locate from codon 1102 in the distal region. Among the thirty-nine FAP-patients, we found that those with the germline mutations within codon 1055 and codon 1262 had colorectal carcinomas of an advanced stage, at a high rate (71.4%). Special attention and aggressive intervention is needed in these patients and relatives at risk. With reasonable and appropriate management, it should be possible to prolong and improve the quality of life of those family members both affected and at risk.

Authors+Show Affiliations

Dept. of Genetics, Hyogo College of Medicine, Nishinomiya, Japan.No 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

10746979

Citation

Li, G, et al. "Molecular and Clinical Study of Familial Adenomatous Polyposis for Genetic Testing and Management." Journal of Experimental & Clinical Cancer Research : CR, vol. 18, no. 4, 1999, pp. 519-29.
Li G, Tamura K, Yamamoto Y, et al. Molecular and clinical study of familial adenomatous polyposis for genetic testing and management. J Exp Clin Cancer Res. 1999;18(4):519-29.
Li, G., Tamura, K., Yamamoto, Y., Sashio, H., Utsunomiya, J., Yamamura, T., Shimoyama, T., & Furuyama, J. (1999). Molecular and clinical study of familial adenomatous polyposis for genetic testing and management. Journal of Experimental & Clinical Cancer Research : CR, 18(4), 519-29.
Li G, et al. Molecular and Clinical Study of Familial Adenomatous Polyposis for Genetic Testing and Management. J Exp Clin Cancer Res. 1999;18(4):519-29. PubMed PMID: 10746979.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular and clinical study of familial adenomatous polyposis for genetic testing and management. AU - Li,G, AU - Tamura,K, AU - Yamamoto,Y, AU - Sashio,H, AU - Utsunomiya,J, AU - Yamamura,T, AU - Shimoyama,T, AU - Furuyama,J, PY - 2000/4/4/pubmed PY - 2000/5/20/medline PY - 2000/4/4/entrez SP - 519 EP - 29 JF - Journal of experimental & clinical cancer research : CR JO - J. Exp. Clin. Cancer Res. VL - 18 IS - 4 N2 - Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps, predominantly in the colorectal region. Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis. We examined germline mutations of the APC gene and clinical features among eighty-seven individuals who consisted of thirty-nine FAP-patients, thirty-seven of their family members with a 1 in 2 risk of predisposition to this disease, and eleven normal persons. We accurately identified nine heterozygotes, among individuals with a 1 in 2 risk by genetic testing, without the uncertainty of the recurrence risk calculated by Bayes' theorem. Six of the nine heterozygotes were confirmed to have colorectal polyps by colonoscopic examination. Since they were diagnosed at 12.7 years-of-age on average, and were no more than 20 years old, they could be treated to prevent colorectal cancer. Based on the genotype-phenotype correlation, we concluded that the germline mutations responsible for the sparse polyps phenotype of FAP-patients tend to locate from codon 1055 in the proximal region of the APC gene, while those for the profuse type locate from codon 1102 in the distal region. Among the thirty-nine FAP-patients, we found that those with the germline mutations within codon 1055 and codon 1262 had colorectal carcinomas of an advanced stage, at a high rate (71.4%). Special attention and aggressive intervention is needed in these patients and relatives at risk. With reasonable and appropriate management, it should be possible to prolong and improve the quality of life of those family members both affected and at risk. SN - 0392-9078 UR - https://www.unboundmedicine.com/medline/citation/10746979/Molecular_and_clinical_study_of_familial_adenomatous_polyposis_for_genetic_testing_and_management_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -