Which genetic syndrome is characterized by MUTYH biallelic mutations, multiple colorectal adenomas (typically 10–100), and autosomal recessive inheritance?

• A Lynch syndrome
• B Peutz-Jeghers syndrome
• C Juvenile polyposis syndrome
• D MUTYH-associated polyposis (MAP) ✓

Explanation

MUTYH-associated polyposis (MAP) is caused by biallelic germline mutations in the base excision repair gene MUTYH, resulting in 10–100 colorectal adenomas with autosomal recessive inheritance, distinguishing it from FAP (APC gene, autosomal dominant) and attenuated FAP. Phenotypically, MAP resembles attenuated FAP with a mean onset in the 40s. Lynch syndrome involves mismatch repair genes and few or no polyps. Genetic testing for MUTYH should be considered when FAP phenotype is present without an identifiable APC mutation.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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