Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.
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.
Evans
D G
DG
Department of Medical Genetics, St Mary's Hospital, Manchester.
Guy
S P
SP
Thakker
N
N
Armstrong
J G
JG
Dodd
C
C
Davies
D R
DR
Babbs
C
C
Clancy
T
T
Warnes
T
T
Sloan
P
P
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000367:Age Factors; D000368:Aged; D004273:DNA, Neoplasm / Q000032:analysis; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics; D012307:Risk Factors; D014076:Tooth Diseases / Q000235:genetics
D004273:DNA, Neoplasm