Abstract
PurposeYoung women who have been identified as carrying a deleterious mutation in BRCA1 or BRCA2 face a unique set of challenges related to managing cancer risk during a demographically-dense stage of life. They may struggle with decision-making in the absence of clear age-specific guidelines for medical management and because they have not yet fully developed the capacity to make life-altering decisions confidently. This study sought a patient-centered perspective on the dilemmas faced by 18–24 year olds who completed BRCA1/2 gene mutation testing prior to their 25th birthdays.Patients and MethodThis study integrated qualitative data from three independent investigations of BRCA1/2-positive women recruited through cancer risk clinics, hospital-based research centers, and online organizations. All 32 participants were women aged 21–25 who tested positive for a BRCA1/2 gene mutation between 2 and 60 months prior to data collection. Investigators used techniques of grounded theory and interpretive description to conduct both within and cross-study analysis.ResultsParticipants expressed needs for (1) greater clarity in recommendations for screening and prevention before age 25, especially with consideration of early and regular exposure to radiation associated with mammography or to hormones used in birth control, and (2) ongoing contact with providers to discuss risk management protocols as they become available.ConclusionsHealth care needs during the young adult years evolve with the cognitive capacity to address abrupt and pressing change. Specific needs of women in this population include a desire to balance autonomous decision-making with supportive guidance, a need for clear, accurate and consistent medical recommendations. Optimally, these women are best cared for by a team of genetically-oriented providers as part of a sustained program of ongoing support, rather than seen in an episodic, crisis-driven fashion. A discussion of insurance issues and provider-patient cultural differences is presented.
Highlights
Hereditary breast and ovarian cancer risk for women aged 18–24Deleterious mutations in the BRCA1 or BRCA2 genes increase a woman’s lifetime risk of breast and ovarian cancer
Participants expressed needs for (1) greater clarity in recommendations for screening and prevention before age 25, especially with consideration of early and regular exposure to radiation associated with mammography or to hormones used in birth control, and (2) ongoing contact with providers to discuss risk management protocols as they become available
Young carriers experience distress that is both quantitatively and qualitatively different from that of older mutation-positive women [8,9], as they adjust to their mutation status and consider limited proven risk management options
Summary
Hereditary breast and ovarian cancer risk for women aged 18–24. Deleterious mutations in the BRCA1 or BRCA2 genes increase a woman’s lifetime risk of breast and ovarian cancer. By age 70, approximately 60–70% and 45–55% of BRCA1 and BRCA2 mutation carriers will develop breast cancer, respectively; 40% and 20% of BRCA1 and BRCA2 mutation carriers will develop ovarian cancer [1]. Women aged 18–24 who pursue BRCA1/2 mutation testing may receive highly personal and emotionally-charged cancer risk information before they are able to confidently manage this risk. Young carriers experience distress that is both quantitatively and qualitatively different from that of older mutation-positive women [8,9], as they adjust to their mutation status and consider limited proven risk management options
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