An 18-year-old female presented with a positive HNPCC gene mutation who had relative that was diagnosed with HNPCC at the age of 30, 32 and 45. At what age should she start getting screened and with what test?

Question

Quizplus · Accepted Answer

With a documented MMR gene mutation, affected relatives should be screened with colonoscopy every 1 to 2 years beginning at age 25 or at an age 5-10 years younger than the age at diagnosis of the youngest affected family member, whichever is first. Since this patient's youngest relative was diagnosed with HNPCC at the age of 30, she should start receiving screening at the age of 25. As stated earlier, these screenings should be done with a colonoscopy.

An 18-Year-Old Female Presented with a Positive HNPCC Gene Mutation