PRESYMPTOMATIC DIRECT-DETECTION OF ADENOMATOUS POLYPOSIS-COLI (APC) GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS

Citation
Gm. Petersen et al., PRESYMPTOMATIC DIRECT-DETECTION OF ADENOMATOUS POLYPOSIS-COLI (APC) GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS, Human genetics, 91(4), 1993, pp. 307-311
Citations number
29
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
91
Issue
4
Year of publication
1993
Pages
307 - 311
Database
ISI
SICI code
0340-6717(1993)91:4<307:PDOAP(>2.0.ZU;2-B
Abstract
The recent identification of the familial adenomatous polyposis (FAP) gene (designated as APC) enables conclusive genetic testing of at-risk family members for the specific mutation in families in which the ger mline gene mutation has been characterized. Presymptomatic molecular d iagnosis of FAP was performed by direct direction of mutations in lymp hocyte DNA in four families. Each of the families has a different muta tion of the APC gene. Twenty-seven offspring of affected individuals ( a priori risk of 50%) were tested. Ten of the 27 had already developed clinical features of FAP. Of the remaining seventeen, two had had a n egative colon exam at an early age, and nine had never had colon exams (mean age, 12.1 +/- 3.1 SD years). Six children from this group (54%) were found to carry their affected parent's mutation. No change in th e conventional FAP colon screening regimen is recommended for these ch ildren. In contrast, when direct tests indicate that an individual doe s not have the FAP mutation, we recommended that screening be decrease d. Reduction of uncertainty for at-risk FAP family members is an impor tant benefit of genetic testing.