Skip to Main content Skip to Navigation
Journal articles

Improving the Performance of Somatic Mutation Identification by Recovering Circulating Tumor DNA Mutations

Abstract : DNA extracted from cancer patients' whole blood may contain somatic mutations from circulating tumor DNA (ctDNA) fragments. In this study, we introduce cmDetect, a computational method for the systematic identification of ctDNA mutations using whole-exome sequencing of a cohort of tumor and corresponding peripheral whole-blood samples. Through the analysis of simulated data, we demonstrated an increase in sensitivity in calling somatic mutations by combining cmDetect to two widely used mutation callers. In a cohort of 93 breast cancer metastatic patients, cmDetect identified ctDNA mutations in 54% of the patients and recovered somatic mutations in cancer genes EGFR, PIK3CA, and TP53. We further showed that cmDetect detected ctDNA in 89% of patients with confirmed mutated cell–free tumor DNA by plasma analyses (n ¼ 9) within 46 pan-cancer patients. Our results prompt immediate consideration of the use of this method as an additional step in somatic mutation calling using whole-exome sequencing data with blood samples as controls .
Complete list of metadatas

Cited literature [26 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-01377103
Contributor : Celine Lefebvre <>
Submitted on : Thursday, October 6, 2016 - 1:37:39 PM
Last modification on : Tuesday, September 22, 2020 - 3:57:46 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Citation

Yu Fu, Cécile Jovelet, Thomas Filleron, Marion Pedrero, Nelly Motté, et al.. Improving the Performance of Somatic Mutation Identification by Recovering Circulating Tumor DNA Mutations. Cancer Research, American Association for Cancer Research, 2016, 76, Epub ahead of print. ⟨10.1158/0008-5472.CAN-15-3457⟩. ⟨inserm-01377103⟩

Share

Metrics

Record views

403