MKSAP: 46-year-old man with intermittent rectal bleeding

Test your medicine knowledge with the MKSAP challenge, in partnership with the American College of Physicians.

A 46-year-old man is evaluated for intermittent rectal bleeding of 3 months’ duration. He is otherwise well and takes no medications. His father had a few polyps removed from the colon when he was 71 years old, but no other details are known about his father’s medical history. The patient and his wife have three children aged 8, 12, and 18 years.

On physical examination, vital signs and the remainder of the examination are normal.

Colonoscopy reveals 12 polyps ranging in size from 2 to 7 mm, all of which are removed from the colon. He undergoes genetic testing, which reveals biallelic mutations in the MYH gene and confirms a diagnosis of MYH-associated polyposis (MAP).

Genetic testing of which of the following persons will provide the most cost-effective approach to determining if the patient’s children have inherited MAP?

A. The patient’s father
B. The patient’s mother
C. The patient’s 18-year-old child
D. The patient’s wife

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