Childhood to early adult onset HNPCC + malignant gliomas. The polyps developed tend to be larger, fewer, and progress to malignancy earlier than those seen in familial adenomatous polyposis, a clinically similar condition with different underlying mutations. Diagnostic testing consists of a blood sample being collected, and a genetic specialist compares two copies of a patient's gene to normal MMR genes. If there are differences in the genes, the specialists are able to further test and decide if the patient has the deficiency.
Mismatch repair cancer syndrome
Nijmegen breakage syndrome
Chromosome instability syndrome
Warsaw breakage syndrome
SAPHO syndrome
Polymerase proofreading-associated polyposis
Chronic granulomatous disease
MUTYH-associated polyposis