Although the incidence and mortality of ovarian and tubal cancer, henceforth termed ovarian cancer (OC), have declined over the past three decades, the disease still carries a high five-year mortality rate of approximately 50 % [1]. Around 15–20 % of OC cases are attributable to hereditary cancer syndromes, with pathogenic germline variants (gPVs) in BRCA1 and BRCA2 accounting for 65–85 % of these [2,3]. Other genes implicated in hereditary OC include those involved in homologous recombination repair (e.g., RAD51C, RAD51D, BRIP1, PALB2) [2,[4], [5], [6]], and mismatch repair (MMR) genes associated with Lynch syndrome (LS), such as MLH1, MSH2, MSH6, PMS2, and EPCAM [[7], [8], [9]]. Compared to the general population's estimated lifetime risk of 1.6 %, women with BRCA1 gPVs have a 40–60 % lifetime risk of OC, while those with BRCA2 gPVs face a 10–20 % risk. Women with LS have an estimated 3–18 % lifetime risk [10,11].
Identifying genetic predisposition to OC has critical implications for cancer prevention, risk assessment, and targeted therapy for patients and their families [[12], [13], [14], [15]]. Although guidelines support universal germline testing for all patients diagnosed with epithelial OC, testing rates remain suboptimal. Gaps in genetic referral and testing uptake persist across racial, ethnic, and geographic lines [[16], [17], [18], [19], [20], [21], [22], [23], [24], [25], [26], [27]]. Historically, much of the literature on inherited OC has focused on Ashkenazi Jewish (AJ) women, who have a high prevalence of BRCA1/2 founder mutations [16,23]. Consequently, there is less understanding of hereditary OC among racially and ethnically diverse populations [[17], [18], [19], [20], [21], [22],25,27]. However, emerging studies suggest that the prevalence of gPVs among individuals from diverse backgrounds may be comparable to that seen in AJ or non-Hispanic White populations [16,23,[28], [29], [30]]. In this study, we analyzed a large, national registry from a clinical genetic testing laboratory to evaluate the frequency and distribution of gPVs among patients with OC, stratified by self-reported ancestry.
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