Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus.
OBJECTIVE
To investigate the possibility that neuroepithelial tumors in Turcot's syndrome are caused by pleiotropic mutations in the gene for adenomatous polyposis coli (APC), a tumor-suppressor gene implicated in colonic cancer.


METHODS
We studied the inheritance patterns of genetic markers for the chromosome 5q21 region in 12 members of a Turcot's syndrome kindred with five affected members. We performed linkage analysis to detect linkage between the disease phenotype and DNA markers.


RESULTS
Marker D5S346, located 30 to 70 kilobases from the APC locus, showed evidence highly suggestive of linkage to the disease phenotype (lod score = 1.92).


CONCLUSIONS
The data provide evidence that the tumor-suppressor gene implicated in APC and sporadic colon cancers may also cause malignant neuroepithelial tumors in Turcot's syndrome.
Lasser
D M
DM
Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY.
DeVivo
D C
DC
Garvin
J
J
Wilhelmsen
K C
KC
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D005736:Gardner Syndrome / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D009154:Mutation; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D005819:Genetic Markers