Chromosome location: 1p34.1
Gene: MUTYH (A/G specific adenine DNA glycosylase, engaged in DNA damage repair; MutY, Homolog of E.coli))
Inheritance: autosomal recessive (biallelic)
Situations when to suspect MAP in a patient:
(1) 1 to 10 colon adenomas before 40 years of age
(2) 10 to a few hundred of colon adenomas and/or hyperplastic polyps (including > 100 adenomas)
(3) colorectal cancer with somatic KRAS mutation (codon 12, c.34G>T)
(4) autosomal recessive inheritance of colorectal cancer in a family
Other reasons to suspect MAP in a patient:
(1) multiple duodenal adenomas with or without duodenal adenocarcinoma
(2) multiple gastric fundic gland polyps
Exclusion (relative): germline APC mutation
Extra-colonic malignancies include:
(1) ovary
(2) urinary bladder
(3) skin, including sebaceous gland tumors
(4) papillary thyroid carcinoma
(5) duodenal adenocarcinoma
(6) breast
(7) endometrial adenocarcinoma
(8) gastric adenocarcinoma
