Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.
Open Access
- 1 October 1993
- Vol. 34 (10) , 1389-1393
- https://doi.org/10.1136/gut.34.10.1389
Abstract
One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described. Screening protocols should include dental screening as well as indirect ophthalmoscopy and endoscopy to detect minimal manifestations of the gene. In the absence of a specific DNA predictive test, bowel screening should continue well beyond 30 years of age.Keywords
This publication has 16 references indexed in Scilit:
- Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.Proceedings of the National Academy of Sciences, 1992
- Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study.BMJ, 1992
- Risk estimation in familial adenomatous polyposis using DNA probes linked to the familial adenomatous polyposis gene.Gut, 1992
- A CA repeat 30 – 70 KB downstream from the adenomatous polyposis coli (APC) geneNucleic Acids Research, 1991
- Identification of FAP Locus Genes from Chromosome 5q21Science, 1991
- Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer PatientsScience, 1991
- Identification and characterization of the familial adenomatous polyposis coli geneCell, 1991
- The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations.Journal of Medical Genetics, 1991
- RELATED DISEASE—RELATED CAUSE?The Lancet, 1969
- Some genetic aspects of familial multiple polyposis of the colon in a kindred of 1,422 membersDiseases of the Colon & Rectum, 1968