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

Abstract

Inherited gene mutations (pathogenic variants) cause 10% of breast cancers. pathogenic variants predispose carriers to triple-negative breast cancer (TNBC); around 30% of patients with TNBC carry 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. 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 pathogenic variant status among tested patients. Descriptive statistical methods and a univariate analysis were used to identify patient characteristics associated with genetic counseling referral. 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 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. Among long-term TNBC survivors, the rate of referral to genetic counseling increased over time, and among those tested, 35% carried a pathogenic variant. Survivorship care provides an excellent opportunity to refer eligible patients for genetic counseling.

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer

“…24 There is a possibility that our results are due in part to selection bias, as similar rates of PVs in BRCA genes (31%-35%) have been reported in TNBC patients referred for genetic counseling in the United States. 25,26 However, our group previously observed that 27% of Mexican TNBC patients aged ≤50 years at diagnosis had a BRCA PV, 14 and the results of this study confirm a high rate of BRCA-associated cases in Mexican patients with this molecular subtype. BRCA1 and BRCA2 represented the majority of PVs identified in this cohort.…”

An Overview of PARP Inhibitors for the Treatment of Breast Cancer

“…Testing rates also vary widely according to BC receptor subtype [104,[113][114][115][116][117][118]. Potential barriers to BRCA testing uptake and genetic counseling for eligible women with or without a diagnosis of BC include: lack of understanding and knowledge about genetic counseling and testing by physicians and patients; lack of perceived benefits of counseling; lack of perceived risk of having a mutation; cost of testing; and fear of insurance discrimination [94,109,[119][120][121]. Patients' attitudes to BRCA testing (the predisposing factor), income (the enabling factor), and risk of carrying a BRCA mutation (the need factor) predict uptake of BRCA testing [122].…”

Factors associated with genetic testing in a cohort of breast cancer survivors

“…In 2005, it was estimated 12.1% of eligible women with breast cancer received genetic testing . Recent estimates are higher, with estimates as high as 40%‐50%, while other studies report lower testing rates of 20%‐30% . Given the impact of genetic test findings on treatment decisions (type of surgery and chemotherapy, use of PARP inhibitors), our findings emphasize the need to further expand genetic testing among eligible breast cancer patients.…”