The Challenges of Genetic Testing in Patients Diagnosed with Breast Cancer; The Kent Oncology Centre Experience
Background:
• NICE guidelines advise to offer genetic testing for BRCA mutations if the risk of being a BRCA carrier is over 10%
• In patients with a suggestive personal and/or family history, a specific predisposing gene is identified in <30% of cases.
• A BRCA1 pathogenic mutation found in 45/308 participants in the TNT trial
• Women with triple negative BrCa <50years had a 20% BRCA1 mutation prevalence
Aims:
• To document the number of new pathogenic mutation carriers identified
• To estimate the expected number of carriers based on Family History and presentation
• To highlight the gap in case identification and offer solutions to
optimise pathways
• NICE guidelines advise to offer genetic testing for BRCA mutations if the risk of being a BRCA carrier is over 10%
• In patients with a suggestive personal and/or family history, a specific predisposing gene is identified in <30% of cases.
• A BRCA1 pathogenic mutation found in 45/308 participants in the TNT trial
• Women with triple negative BrCa <50years had a 20% BRCA1 mutation prevalence
Aims:
• To document the number of new pathogenic mutation carriers identified
• To estimate the expected number of carriers based on Family History and presentation
• To highlight the gap in case identification and offer solutions to
optimise pathways
