Premium
When is molecular genetic testing for colorectal cancer indicated?
Author(s) -
BARBARA LEGGETT
Publication year - 2002
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1046/j.1440-1746.2002.02727.x
Subject(s) - medicine , genetic testing , colorectal cancer , mutation , familial adenomatous polyposis , predictive testing , cancer , cowden syndrome , germline mutation , lynch syndrome , disease , adenomatous polyposis coli , genetic counseling , genetics , gene , biology , dna mismatch repair
The genetic mutations causing many of the syndromes which confer a high inherited risk of colorectal cancer have now been identified. These include familial adenomatous polyposis, hereditary non‐polyposis colorectal cancer, Peutz‐Jeghers syndrome, Cowden’s syndrome and juvenile polyposis. In all these diseases, the precise mutation is nearly always unique to a particular family; there are few mutation hot spots. This means that mutation detection is technically demanding. Nonetheless, genetic testing can now be used clinically to confirm the diagnosis in affected individuals, and to predict whether an ‘at risk’ family member has inherited the disease and should therefore have endoscopic screening. Because current technology does not detect all mutations, a negative result in a definitely affected individual is diagnostically unhelpful and does not allow predictive testing of other family members. When a mutation can be detected, it is diagnostically very useful, and allows better management of all family members. © 2002 Blackwell Publishing Asia Pty Ltd