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CHEK2 — SCE Medical Oncology MCQ

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HardCancer GeneticsCHEK2SCE Medical Oncology

A 35-year-old woman with a germline CHEK2 1100delC mutation is found to have breast cancer. What is the clinical significance of CHEK2 mutations in breast cancer?

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Correct answer: A — CHEK2 mutations confer a moderate breast cancer risk (~20-30% lifetime) and are associated with ER-positive, luminal-type tumours; they may influence treatment decisions regarding radiation sensitivity

CHEK2 (checkpoint kinase 2) mutations are moderate-penetrance breast cancer susceptibility alleles. The 1100delC founder mutation confers approximately 2-3× breast cancer risk (20-30% lifetime risk). CHEK2-associated breast cancers are predominantly ER-positive/luminal type. Unlike BRCA1/2, PARP inhibitor sensitivity is not well established for CHEK2. Enhanced breast surveillance (annual MRI from age 40) is recommended. CHEK2 also confers increased risks of colon, prostate and kidney cancer.

Reference: NICE CG164 Familial breast cancer; ESMO 2024 Hereditary Cancer; Weischer et al JCO 2008