Update on breast cancer genetics

The breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 were identified over 10 years ago. Development and expansion of cancer genetics services across the United Kingdom coupled with advances in genetic technology and investment from the government White Paper 'Our Inheritance, Our Future' have increased demand and access for diagnostic genetic testing of BRCA1 and BRCA2. NICE guidelines from 2004 recommend that individuals with a > 20% risk of having a mutation should be offered comprehensive diagnostic BRCA1 and BRCA2 mutation testing. This now detects over 95% of all mutations, as well as variants of unknown significance. BRCA1 and BRCA2 carriers face complex decisions regarding screening and risk-reducing options in a rapidly changing field and may benefit from a multidisciplinary approach to their care. However, the majority of breast-cancer-only families will have no BRCA1 or BRCA2 mutation identified on diagnostic gene testing. Research studies to identify further breast cancer susceptibility genes are ongoing.