Basal Cell Nevus Syndrome Genetics and Cancer - Basal Cell Nevus
Syndrome (Gorlin Syndrome) The risk for ovarian cancer and skin
cancer is increased with basal cell nevus syndrome (also called
Gorlin syndrome and nevoid basal cell carcinoma), a rare
autosomal dominant cancer genetic syndrome. Features associated
with basal cell nevus syndrome may include the following: -
Development of more than two basal cell carcinomas (cancer of
the outer layer of the skin) before the age of 20 - Cysts in the
jaw - Characteristic facial appearance - Calcification of the
falx (a variation in the appearance of the skull that is visible
on x-rays) - Pits in the palms and soles of the feet -
Macrocephaly (enlarged head size) - Rib or vertebral
abnormalities - Increased risk of medulloblastoma - Increased
risk of ovarian fibromas (benign, or noncancerous, tumors) Basal
cell nevus syndrome is caused by changes in a tumor suppressor
gene, called PTCH, located on chromosome 9. Mutations in this
gene may increase the risk of some c