Table 12 -- Autosomal Dominant Colon Cancer Susceptibility Syndromes
*
Cancer Syndrome
Gene Localization
Commercial Testing
Diagnostic in Percent of Affected Cases
Hereditary Non-Polyposis Colon Cancer (HNPCC)
MSH2 2p
MLH1 3p
MSH6 2p
PMS1 2q
PMS2 7p
Yes
Yes
Yes
No
Yes
60-65%
(31% are MSH2, 33% are MLH1, ~5% are MSH6, PMS1 and PMS2 combined). ~33% of cases have undetermined mutation
Variants of HNPCC --
° Muir-Torre Syndrome
° Turcot Syndrome
° MSH2
° MLH1, PMS1&2
Yes
Familial adenomatous polyposis (FAP)
APC 5q21-22
Yes
60-80%
(truncation protein assay)
Variants of FAP --
° Gardner syndrome
° Attenuated APC
° Crail Syndrome
° APC 5q21-22
° APC, extreme 5' and 3' ends
° APC 5q21-22
Yes
60-80%
(truncation protein assay)
Juvenile polyposis (heterogeneous)
DPC4 18q21
PTEN 10q23
No
No
Unknown
Cowden syndrome
PTEN 10q23
No
Unknown
Peutz-Jegher syndrome
LKB1/STK11 19p
No
Unknown
* A current listing of commercially available genetic tests can be found through HELIX:
http://www.hslib.washington.edu/helix