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Evid Based Nurs 14:126-127 doi:10.1136/ebn1168
  • Womens health
  • Phenomenology

Impact of the genetic screening revolution: understanding and meeting the needs of previvors with a known family mutation in BRCA/BRCA2

  1. Suzanne M Mahon
  1. Division of Hematology/Oncology, Saint Louis University Cancer Center, St. Louis, Missouri, USA
  1. Correspondence to Suzanne M Mahon
    Saint Louis University Cancer Center, 3rd Floor West Pavilion, 3655 Vista Avenue, St Louis, MO 63110, USA; mahonsm{at}slu.edu

Commentary on:

Implications for practice and research

  • The increasing availability of genetic testing enables other family members who have not yet developed breast cancer to determine if they have inherited the risk; those with a mutation are known as previvors.

  • Once a previvor is identified, they are faced with complicated, and often difficult, decisions regarding prophylactic surgery, chemoprevention or aggressive screening.

  • Persons considering genetic testing need to understand the potential impact of testing for themselves and family including recommended measures for management before undergoing testing.

  • Further nursing research is needed to identify the best means to communicate risk and genetic testing results.

Context

Approximately 10% of all women diagnosed with breast cancer have a genetic predisposition most commonly associated with mutations in BRCA1/BRCA2.1 Once a mutation is identified within a family, other first degree relatives have a 50% chance of also having the mutation, which places them at increased risk (up to 90% lifetime risk of breast cancer and 50% risk of developing ovarian cancer). Known as previvors, these individuals must be provided with comprehensive and impartial information to help them decide how to manage this substantial risk.2 Ideally, primary prevention strategies are utilised, which include prophylactic mastectomy and prophylactic salpingo-oophorectomy. Secondary prevention activities might include more aggressive screening including the use of breast MRI and pelvic ultrasound.

Methods

This study of 19 women aged 18–50 utilised Heideggerian qualitative methodology with purposive and network sampling techniques. The women participated in taped in-depth interviews (in person or via telephone) which lasted 40–60 min. …

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