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.
2 min synopsisUK scopeSources checked 27 Aug 2026Clinical review pending
!
Symptoms override the surveillance calendar
A new breast or axillary lump, nipple or skin distortion, focal persistent pain, abdominal distension or other cancer symptom in a high-risk person needs diagnostic assessment rather than waiting for the next screening round.
Action: Use the symptomatic cancer pathway and urgent triple assessment or site-specific investigation immediately, tell radiology and genetics about pregnancy and the relevant variant and resume the long-term risk programme only after the new clinical problem has been resolved.
Synopsis
Identify inherited breast-cancer risk from both sides of a family, test the most informative person, interpret pathogenic and uncertain variants correctly and coordinate gene-specific surveillance, prevention, treatment and cascade care.
Take a three-generation history covering maternal and paternal relatives, cancer site, age at diagnosis, bilateral or multiple primaries, ancestry and confirmed pathology; small families and early deaths can hide inherited risk.
Test an affected relative first whenever possible because a negative result in an unaffected person is often uninformative when the familial cause is unknown.
Use an accredited germline multigene panel matched to the phenotype rather than ordering BRCA1 and BRCA2 reflexively for every family or using a consumer test.
Key red flags
Breast cancer at a young age, bilateral primaries, male breast cancer or breast and ovarian cancer in one lineage suggests inherited susceptibility.
Current symptomatic disease
A mutation carrier with a new lump enters urgent triple assessment; surveillance imaging is not a substitute for symptomatic diagnosis.
Investigation priorities
01
First-line three-generation pedigreeFirst stepFirst line
Identify syndromic patterns, the most informative person to test and relatives who may benefit from cascade care.
02
First-line gene-specific breast imagingFirst line
Detect preclinical breast cancer at the interval and with the modality appropriate to current absolute risk.
Management branches
ReferralBuild the pedigree before ordering
Personal or family cancer features suggest inherited breast-cancer susceptibility.
Collect cancers, ages, bilateral and multiple primaries, ancestry and both parental lineages and verify key pathology or death records where feasible.
Use current genomic-testing criteria and a validated risk model to determine genetics referral and identify the most informative living affected relative.
Key medicines
Tamoxifen for premenopausal risk reductionGive tamoxifen 20 mg orally once daily for 5 years when preventive treatment is chosen for an eligible premenopausal person at increased breast-cancer risk.
Anastrozole for postmenopausal risk reductionGive anastrozole 1 mg orally once daily for 5 years when NICE preventive criteria are met in a postmenopausal person and bone and symptom risks are acceptable.
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.