Inherited colorectal polyposis and cancer risk of the APC I1307K (ital) polymorphism

Article Abstract:

The APCI1307K variant of the APC gene leads to greater formation of adenoma and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer. Clinical screening may be justified for the group likely to have the allele. Long-term outcome studies with genetic testing may have an impact for prevention. A large cohort of unselected Ashkenazi Jewish subjects with adenomatous polyps and/or colorectal cancer has been analyzed for the APCI1307K (ital) polymorphism. In 48 of 476 patients, the APCI1307K allele was identified. Carriers had higher numbers of adenomas and colorectal cancer vs others and were younger at diagnosis. The APCI1307K allele is associated with an estimated relative risk of 1.5-1.7 for colorectal neoplasia vs two population control groups.

Colorectal cancer, Diseases, Genetic polymorphisms, Population genetics, Colorectal diseases, Intestinal diseases, Polyposis, Familial, Familial polyposis, Ashkenazim

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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

Article Abstract:

Axenfeld-Rieger anomaly, one of several related autosomal dominant disorders that lead to glaucoma produced by mutations in the forkhead/winged-helix gene, FKHL7 (ital), are discussed. These mutations create anterior-segment defects and glaucoma in some patients, but likely one more locus involved in eye development regulation is at 6p25.

United States, Statistical Data Included, Physiological aspects, Gene mutations, Gene mutation, Eye, Glaucoma

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