| Added by | mollevi |
|---|---|
| Last modified by | llasorsa |
| Group name | EquipeMY |
| Item Type | Journal Article |
| Title | Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA |
| Creator | Thierry et al. |
| Author | A. R. Thierry |
| Author | F. Mouliere |
| Author | S. El Messaoudi |
| Author | C. Mollevi |
| Author | E. Lopez-Crapez |
| Author | F. Rolet |
| Author | B. Gillet |
| Author | C. Gongora |
| Author | P. Dechelotte |
| Author | B. Robert |
| Author | M. Del Rio |
| Author | P. J. Lamy |
| Author | F. Bibeau |
| Author | M. Nouaille |
| Author | V. Loriot |
| Author | A. S. Jarrousse |
| Author | F. Molina |
| Author | M. Mathonnet |
| Author | D. Pezet |
| Author | M. Ychou |
| Abstract | Assessment of KRAS status is mandatory in patients with metastatic colorectal cancer (mCRC) before applying targeted therapy. We describe here a blinded prospective study to compare KRAS and BRAF mutation status data obtained from the analysis of tumor tissue by routine gold-standard methods and of plasma DNA using a quantitative PCR-based method specifically designed to analyze circulating cell-free DNA (cfDNA). The mutation status was determined by both methods from 106 patient samples. cfDNA analysis showed 100% specificity and sensitivity for the BRAF V600E mutation. For the seven tested KRAS point mutations, the method exhibited 98% specificity and 92% sensitivity with a concordance value of 96%. Mutation load, expressed as the proportion of mutant alleles in cfDNA, was highly variable (0.5-64.1%, median 10.5%) among mutated samples. CfDNA was detected in 100% of patients with mCRC. This study shows that liquid biopsy through cfDNA analysis could advantageously replace tumor-section analysis and expand the scope of personalized medicine for patients with cancer. |
| Publication | Nat Med |
| Volume | 20 |
| Pages | 430-5 |
| Date | Apr 2014 |
| Journal Abbr | Nature medicine |
| DOI | 10.1038/nm.3511 |
| ISSN | 1546-170X (Electronic) 1078-8956 (Linking) |
| Tags | *Point Mutation, Adult, Aged, Aged, 80 and over, Case-Control Studies, Cohort Studies, Colorectal Neoplasms/*diagnosis/genetics, DNA, Neoplasm/*analysis, Female, Humans, Male, Middle Aged, Neoplasm Metastasis, original, Prospective Studies, Proto-Oncogene Proteins B-raf/*genetics, Proto-Oncogene Proteins/*genetics, ras Proteins/*genetics, Reverse Transcriptase Polymerase Chain Reaction, Sensitivity and Specificity, Sequence Analysis, DNA, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, top |
| Date Added | 2019/05/22 - 09:42:41 |
| Date Modified | 2025/01/10 - 15:18:19 |
| Notes and Attachments | (Note) (Note) 24658074 (Attachment) |
Institut de Recherche en Cancérologie de
