Germline Mutations Related to Complete Remission After Neoadjuvant Chemotherapy in Patients With Triple-negative Breast Cancer

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Purpose: Triple-negative breast cancer (TNBC) is a frequent phenotype of BRCA-mutant tumors.Tumors with BRCAness may show characteristics of BRCA-mutant tumors and respond to similar treatments.Next-generation sequencing is an efficient and cost-effective method for simultaneously sequencing multiple cancer susceptibility genes, surpassing conventional Sanger testing.Methods: A total of 148 women with TNBC were recruited from December 2015 to November 2018, as part of a sub-analysis based on the PEARLY trial data.Of them, 103 patients received neoadjuvant chemotherapy (NCT).The targeted genes related to hereditary cancers were sequenced using the 65gene germline next-generation sequencing (gNGS) panel pathogenic and likely pathogenic variants (P&LPs) were determined by Sanger sequencing.We examined the occurrence of pathologic complete remission (ypCR) in patients with P&LPs.Results: The patients' median age was 47 years (range, 27-69 years).Twenty (13.7%) of 148 patients had P&LP in six genes, including BARD1 (n = 2), BRCA1 (n = 9), BRCA2 (n = 5), CHEK2 (n = 1), RAD51C (n = 1), and RAD51D (n = 2).Among the 103 patients with NCT, 43 (41.7%)achieved ypCR (P&LPs; 9 individuals vs. non-variants; 34 individuals).Among the 103 patients with NCT, 14 (9.3%) had P&LPs.Nine of 14 patients with P&LPs, including BARD1 (n = 2), BRCA1 (n = 4), BRCA2 (n = 1), RAD51C (n = 1), and RAD51D (n = 1), achieved ypCR, showing a trend toward statistical significance (p = 0.066).Conclusion: Germline P&LP mutations in TNBC patients can be detected by gNGS.This panel test can identify BRCA and BRCAness mutations that may predict ypCR in TNBC.

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