Framing
- Familial cancer syndromes are inherited, typically autosomal dominant, germline mutations conferring markedly elevated lifetime risk of specific cancer types - identification through family history pattern recognition (young age of onset, multiple affected relatives, characteristic cancer combinations) triggers genetic counselling, testing, and enhanced surveillance for the patient and at-risk relatives
- Cascade testing of relatives once a familial pathogenic variant is identified is a central, distinguishing management step for this whole group, extending the clinical benefit beyond the index patient alone
What sits under this topic
- See for hereditary breast/ovarian cancer syndrome
- See for APC-driven colorectal polyposis
- See for Lynch syndrome and its mismatch repair gene basis
- See for MEN1/MEN2 multi-organ endocrine tumour syndromes
2 of 2 sections written · drafted 2026-09-14