All are true regarding familial adenomatous polyposis except:
When familial adenomatous polyposis result from mutations in the APC gene, it is inherited in an autosomal dominant pattern. Which means one copy of the altered gene in each cell is sufficient to cause this disorder. In most cases, an affected person has one parent with the condition. When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern. Which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Gardner syndrome (GS) Is the association of colonic adenomatous polyposis osteomas, and soft tissue tumors (epidermoid cysts, fibromas, desmoid tumors). Turcot syndrome Includes polyps, medulloblastoma, congenital hyperophy of the retinal pigmented epithelium , and glioblastoma multiforme). Cowden syndrome Includes polyps, fibrocystic disease, breast cancer, and thyroid cancer).
Associated endocrine involvement can be present
More > 100 polyps in the colon
Autosomal recessive
Multiple duodenal polyps
JIPMER 2017