Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer

Abstract

<b>Background:</b> Inherited <i>BRCA</i> gene mutations (pathogenic variants) cause 10% of breast cancers. <i>BRCA</i> pathogenic variants predispose carriers to triple-negative breast cancer (TNBC); around 30% of patients with TNBC carry <i>BRCA</i> pathogenic variants. The 2018 NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian recommend genetic counseling referrals for patients with TNBC diagnosed at age ≤60 years. This study sought to describe genetic counseling referral patterns among long-term TNBC survivors at The University of Texas MD Anderson Cancer Center. <b>Methods:</b> This single-institution retrospective analysis of female long-term (disease-free for ≥5 years) TNBC survivors sought to determine the rate of genetic counseling referral among patients diagnosed at age ≤60 years between 1992 and 2008. Patients who underwent treatment and surveillance visits at our institution and were followed until 2017 were included. We collected <i>BRCA</i> pathogenic variant status among tested patients. Descriptive statistical methods and a univariate analysis were used to identify patient characteristics associated with genetic counseling referral. <b>Results:</b> We identified 646 female long-term TNBC survivors with a median age at diagnosis of 47 years. Of these, 245 (38%) received a recommendation for a genetic counseling referral. Among those referred, 156 (64%) underwent genetic testing, and 35% of those tested had <i>BRCA</i> pathogenic variants. Interestingly, among those referred, 20% declined genetic testing. The rate of genetic referrals improved over time, from 25% among TNBC survivors whose last surveillance visit was between 2011 and 2013 to 100% among those whose last surveillance visit was between 2014 or later. Younger age and premenopausal status at diagnosis and a family history of breast or ovarian cancer were associated with an increased rate of referral for genetic counseling. <b>Conclusions:</b> Among long-term TNBC survivors, the rate of referral to genetic counseling increased over time, and among those tested, 35% carried a <i>BRCA</i> pathogenic variant. Survivorship care provides an excellent opportunity to refer eligible patients for genetic counseling.