Gene-testing is feasible in the breast clinic– a pilot study in a cohort of breast cancer patients (GENERATE)

Abstract

Introduction: Inherited mutations in the BRCA1 & BRCA2 gene are known to increase the risk of breast and ovarian cancer. There is an up to 85% lifetime risk of developing breast cancer in healthy carriers. Once diagnosed with breast cancer there is a 50% increased risk of contralateral breast cancer 25 years from initial diagnosis. As such, identifying these patients through genetic testing enables clinicians to offer early risk-reducing strategies for breast and ovarian surgery. The “Angelina Jolie effect” has seen a 250% increase in referrals to genetic services. Our unit is one of the first in the UK offering genetic-testing (GENERATE) as part of routine breast cancer care. This is a retrospective cohort study of breast cancer patients enrolled into the GENERATE project.