Table 2

Management proposals.

Breast cancer genes
GeneBreast cancer risk managementReferences
ATM*†12–18 monthly mammography from 40 to 50 depending on family history, then NHSBSP
For c.7271T>G consider BRCA-equivalent
Ataxia-telangiectasia in children: guidance on diagnosis and clinical care18
Protocols for the surveillance of women at higher risk of developing breast cancer, Public Health England19
BRCA1 As per national guidelinesNICE CG16420
BRCA2 As per national guidelinesNICE CG16420
CHEK2†‡12-monthly mammography from 40 to 50, then NHSBSP
For homozygotes consider BRCA-equivalent
Tung et al 21
PALB2Consider BRCA-equivalentTung et al 21
PTEN§Consider BRCA-equivalentUK-CGG guidelines for management of tumour risk in PTEN hamartoma syndrome22
STK11 Consider BRCA-equivalentBeggs et al 23
TP53 As per national guidelinesNICE CG16420