NGS-based profiling of key cancer genes in Indian triple-negative breast cancer patients reinforces molecular heterogeneity of the disease

• Published in: Indian journal of cancer 2021-10, Vol.58 (4), p.598-602
• Main Authors: Sahasrabuddhe, Nandini, Korlimarla, Aruna, Kulkarni, Madhura, Kusuma, Vinay, Prabhu, Jyothi, Dixit, Santosh, Deshmukh, Chetan, Sridhar, T, Phatak, Aditya, Koppiker, Chaitanyananda
• Format: Article
• Language: English
• Subjects: Breast cancer; Cancer; Cancer patients; Care and treatment; Genes; Genetic aspects; Patients
• ISSN: 0019-509X; 1998-4774
• DOI: 10.4103/ijc.IJC_432_20

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.