The Application of Clinical Genetics (Nov 2010)

Management of the asymptomatic BRCA mutation carrier

  • Paige Teller,
  • Rita K Kramer

Journal volume & issue
Vol. 2010, no. default
pp. 121 – 131

Abstract

Read online

Paige Teller1, Rita K Kramer21Surgical Oncology, 2Medical Oncology, Medical University of South Carolina, Charleston, SC, USAAbstract: Current management of an asymptomatic BRCA mutation carrier includes early initiation and intensive cancer screening in combination with risk reduction strategies. The primary objectives of these interventions are earlier detection and cancer prevention to increase quality of life and prolonged survival. Existing recommendations are often based on the consensus of experts as there are few, supportive, randomized control trials. Management strategies for unaffected patients with BRCA mutations are continually redefined and customized as more evidence-based knowledge is acquired with regard to current intervention efficacy, mutation-related histology, and new treatment modalities. This review provides an outline of current, supported management principles, and interventions in the care of the asymptomatic BRCA mutation carrier. Topics covered include surveillance modalities and risk reduction achieved through behavioral modification, chemoprevention, and prophylactic surgery.Keywords: high risk, screening, risk reduction, hereditary breast cancer syndrome