biostudies-literatureSmith NGBreast Cancer Research FoundationSusan G KomenFashion Footware Association of New YorkGlimmer of HopeNCI NIH HHS22https://www.ebi.ac.uk/biostudies/studies/S-EPMC6368740biostudies-literatureUnknown21(1)<h4>Background</h4>Breast cancer is the most common invasive cancer among women worldwide. Next-generation sequencing (NGS) has revolutionized the study of cancer across research labs around the globe; however, genomic testing in clinical settings remains limited. Advances in sequencing reliability, pipeline analysis, accumulation of relevant data, and the reduction of costs are rapidly increasing the feasibility of NGS-based clinical decision making.<h4>Methods</h4>We report the development of MammaSeq, a breast cancer-specific NGS panel, targeting 79 genes and 1369 mutations, optimized for use in primary and metastatic breast cancer. To validate the panel, 46 solid tumors and 14 plasma circulating tumor DNA (ctDNA) samples were sequenced to a mean depth of 2311× and 1820×, respectively. Breast cancer research : BCRTargeted mutation detection in breast cancer using MammaSeq™.PMC6368740P30 CA047904Not applicableWald AINikiforov YELee AVPuhalla SLucas PCBrufsky AMShah OSGurda GTOesterreich SHartmaier RJKota KNikiforova MNBahreini AGyanchandani RSmith NGfalseTargeted mutation detection in breast cancer using MammaSeq™.<h4>Background</h4>Breast cancer is the most common invasive cancer among women worldwide. Next-generation sequencing (NGS) has revolutionized the study of cancer across research labs around the globe; however, genomic testing in clinical settings remains limited. Advances in sequencing reliability, pipeline analysis, accumulation of relevant data, and the reduction of costs are rapidly increasing the feasibility of NGS-based clinical decision making.<h4>Methods</h4>We report the development of MammaSeq, a breast cancer-specific NGS panel, targeting 79 genes and 1369 mutations, optimized for use in primary and metastatic breast cancer. To validate the panel, 46 solid tumors and 14 plasma circulating tumor DNA (ctDNA) samples were sequenced to a mean depth of 2311× and 1820×, respectively. 2019-01-01T00:00:00Z2019 Feb2026-07-16T20:30:25.518Z2026-07-10T03:09:25.31ZS-EPMC63687403073683610.1186/s13058-019-1102-7