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Lynch syndrome and endometrial cancer — DRCOG MCQ

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HardGynaecological OncologyLynch syndrome and endometrial cancerDRCOG

A 38-year-old is well but her mother had endometrial cancer at 43, her maternal uncle had colorectal cancer at 46 and her grandmother had both cancers. What is the best next step?

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Correct answer: E — Refer for clinical-genetics assessment for possible Lynch syndrome

The best answer is “Refer for clinical-genetics assessment for possible Lynch syndrome”. Multiple close maternal relatives with early endometrial and colorectal cancers strongly suggest a mismatch-repair cancer predisposition such as Lynch syndrome. Clinical-genetics assessment can verify the pedigree, identify the most informative testing route and counsel about surveillance, risk reduction and family implications. CA125 and cervical screening do not address this inherited pattern.

Reference: NHS Genomics Education Programme: Lynch syndrome: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/lynch-syndrome/