Triple-negative breast cancers (TNBC) are one of the most aggressive forms of breast cancers. With poor patient outcomes, it presents a great burden on the healthcare systems. There have been some efforts to explore the genomic changes that occur in TNBCs. However, there is not enough data on Indian TNBCs. We sought to understand the mutational landscape of key cancer-associated genes in Indian TNBC patients using TruSeq Cancer Amplicon Panel. We sequenced 51 TNBC patient samples and found great heterogeneity amongst samples with respect to the genomic variants. Several previously reported including alterations in PI3K-AKT pathway genes were also identified. Likewise, we identified several novel high-frequency variants, for example, GNAQ F341S (17%), the functional role of which remains unclear. Our study lays the foundation of larger efforts needed to understand the genomic landscape of Indian TNBCs which can aid in classification and better therapeutic management of patients.


中文翻译：

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印度三阴性乳腺癌患者基于 NGS 的关键癌症基因分析加强了该疾病的分子异质性


三阴性乳腺癌 (TNBC) 是最具侵袭性的乳腺癌之一。由于患者预后不佳，这给医疗保健系统带来了巨大负担。已经做出了一些努力来探索 TNBC 中发生的基因组变化。然而，没有足够的关于印度 TNBC 的数据。我们试图使用 TruSeq Cancer Amplicon Panel 了解印度 TNBC 患者中关键癌症相关基因的突变情况。我们对 51 个 TNBC 患者样本进行了测序，发现样本之间在基因组变异方面存在很大的异质性。还鉴定了一些先前报道的包括 PI3K-AKT 途径基因的改变。同样，我们确定了几个新的高频变体，例如 GNAQ F341S (17%)，其功能作用仍不清楚。