Educational draft · awaiting clinical reviewUse Rapid for revision, not patient-care decisions. Check current national and local guidance and the BNF or BNFC before acting.

Textbook/Oncology and palliative care/Hereditary cancer syndromes and genetic referral/Rapid

RapidMLAMSRAFoundation

Hereditary cancer syndromes and genetic referral

Essential points for quick revision.

2 min synopsisUK scopeSources checked 27 Aug 2026Clinical review pending

Synopsis

Recognise patterns of inherited cancer predisposition, take and verify a three-generation pedigree, refer through genomic services, and manage testing, surveillance and family communication without acting on uncertain variants.

Most cancers are not caused by a single inherited high-penetrance variant, but age, tumour pattern and family history can identify people who need genomic assessment.
Referral clues include unusually young cancer, multiple primaries, bilateral disease, characteristic rare tumours and several related cancers on one side of a family.
Take a three-generation pedigree with cancer site, age at diagnosis, ancestry where relevant and results of any previous testing; verify pathology when major decisions depend on it.

Investigation priorities

Three-generation pedigreeFirst step

Estimate whether personal and family pattern meets genomic referral criteria.

Management branches

RecogniseBuild and verify inherited-risk evidence

Personal or family cancer features suggest more than sporadic risk.

Take a three-generation pedigree and obtain the existing pathology or family genetic report rather than relying on a remembered gene name.
Check the current National Genomic Test Directory or specialist criteria and refer with the features that meet them.

Open full textbook →Answer 2 questions

Sources and review status6 sources · checked 27 Aug 2026 · clinical review pending

Sources

Sources and review status

National guidance is shown before implementation-dependent detail. Typical adult dose examples remain subject to patient factors, contraindications and the live BNF or specialist protocol. Source check completed 27 Aug 2026; clinical approval remains outstanding.

Genomics Education: family history of cancerPedigree assessment, red flags and referral considerations for possible inherited cancer predisposition.
NHS England National Genomic Test DirectoriesCurrent national eligibility and test scope for validated constitutional cancer investigations.
Royal College of Pathologists cancer datasetsTumour biomarkers and pathological features that can trigger inherited-risk assessment.
NICE shared decision making recommendationsConsent, uncertainty and preference-sensitive preventive decisions.
Genomics Education: variant of uncertain significanceWhy a VUS is not actionable and must not direct predictive testing or irreversible prevention.
Genomics Education: predictive testingTesting unaffected relatives for a known familial pathogenic variant through a consented genetics pathway.

Authoring stateRapid draftClinical stateAwaiting reviewJurisdictionUnited Kingdom