{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kumar S"],"funding":["NCI NIH HHS"],"pagination":["39"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6281679"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4"],"pubmed_abstract":["Serial monitoring of plasma DNA mutations in estrogen receptor positive metastatic breast cancer (ER + MBC) holds promise as an early predictor of therapeutic response. Here, we developed dPCR-SEQ, a customized assay that utilizes digital PCR-based target enrichment followed by next-generation sequencing to analyze plasma DNA mutations in <i>ESR1</i>, <i>PIK3CA</i>, and <i>TP53</i>. We validated dPCR-SEQ in a prospective cohort of 58 patients with ER + MBC and demonstrate excellent concordance with hotspot <i>ESR1</i> mutation abundance measured by conventional digital PCR. The dPCR-SEQ assay revealed <i>ESR1</i>, <i>PIK3CA</i>, and <i>TP53</i> plasma ctDNA mutations in 55%, 32%, and 32% of the study patients, respectively. We also observed dynamic changes in <i>ESR1</i>, <i>PIK3CA</i>, and <i>TP53</i> ctDNA mutant allele fraction (MAF) that were frequently discordant between the different genes. Thus, monitoring plasma DNA mutation dynamics using a dPCR-SEQ assay is feasible, accurate, and may be investigated as a biomarker of therapeutic response in ER + MBC."],"journal":["NPJ breast cancer"],"pubmed_title":["Tracking plasma DNA mutation dynamics in estrogen receptor positive metastatic breast cancer with dPCR-SEQ."],"pmcid":["PMC6281679"],"funding_grant_id":["P50 CA058223"],"pubmed_authors":["Gupta GP","Tan XM","Carey LA","Chen QB","Garrett AL","Lindsay D","Anders CK","Kumar S"],"additional_accession":[]},"is_claimable":false,"name":"Tracking plasma DNA mutation dynamics in estrogen receptor positive metastatic breast cancer with dPCR-SEQ.","description":"Serial monitoring of plasma DNA mutations in estrogen receptor positive metastatic breast cancer (ER + MBC) holds promise as an early predictor of therapeutic response. Here, we developed dPCR-SEQ, a customized assay that utilizes digital PCR-based target enrichment followed by next-generation sequencing to analyze plasma DNA mutations in <i>ESR1</i>, <i>PIK3CA</i>, and <i>TP53</i>. We validated dPCR-SEQ in a prospective cohort of 58 patients with ER + MBC and demonstrate excellent concordance with hotspot <i>ESR1</i> mutation abundance measured by conventional digital PCR. The dPCR-SEQ assay revealed <i>ESR1</i>, <i>PIK3CA</i>, and <i>TP53</i> plasma ctDNA mutations in 55%, 32%, and 32% of the study patients, respectively. We also observed dynamic changes in <i>ESR1</i>, <i>PIK3CA</i>, and <i>TP53</i> ctDNA mutant allele fraction (MAF) that were frequently discordant between the different genes. Thus, monitoring plasma DNA mutation dynamics using a dPCR-SEQ assay is feasible, accurate, and may be investigated as a biomarker of therapeutic response in ER + MBC.","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2024-11-20T05:21:08.819Z","creation":"2019-03-27T00:11:45Z"},"accession":"S-EPMC6281679","cross_references":{"pubmed":["30534596"],"doi":["10.1038/s41523-018-0093-3"]}}