Abstract

Care for families affected by Familial Breast and Ovarian Cancer (FBOC) is challenging as a broad range of professions and specialties are involved. The aim was to review management and outcomes for a cohort of women at high risk for familial breast and ovarian cancer. Ten-year retrospective follow-up study of individuals in Southern New Zealand assessed by Genetic Health Service New Zealand to be high risk for FBOC and without a personal cancer diagnosis at time of consultation. Twenty women were identified; twelve underwent genetic testing, and a pathogenic BRCA variant was identified in eleven. Eight women had no testing, as no index case was available. Guidelines had been fully adhered to in 55% of women, regardless of BRCA status. Six did not undergo appropriate breast surveillance. To date, seven of the 11 patients who tested positive for a pathogenic BRCA variant (64%) had risk-reducing surgeries. Two women were diagnosed with breast cancer on surveillance imaging; none were diagnosed with ovarian cancer. Four women were lost to follow-up, one of whom subsequently presented with a symptomatic breast cancer. To our knowledge, this is the first study providing long-term data for FBOC in New Zealand. Overall, guidelines were followed satisfactorily, but some women did not receive appropriate surveillance or referrals. An integrated interdisciplinary long-term care provision model in New Zealand might help to address gaps in FBOC surveillance and management.

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