Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA | Zendy

Alain R. Thierry | Zendy; Florent Moulière | Zendy; Safia El Messaoudi | Zendy; Caroline Mollévi | Zendy; Evelyne Lopez-Crapez | Zendy; Fanny Rolet | Zendy; Brigitte Gillet | Zendy; Céline Gongora | Zendy; P. Déchelotte | Zendy; Bruno Robert | Zendy; Maguy Del Rio | Zendy; PierreJean Lamy | Zendy; Frédéric Bibeau | Zendy; Michelle Nouaille | Zendy; Virginie Loriot | Zendy; Anne Sophie Jarrousse | Zendy; Franck Molina | Zendy; Muriel Mathonnet | Zendy; Denis Pezet | Zendy; Marc Ychou | Zendy

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Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA

Author(s) -

Alain R. Thierry,

Florent Moulière,

Safia El Messaoudi,

Caroline Mollévi,

Evelyne Lopez-Crapez,

Fanny Rolet,

Brigitte Gillet,

Céline Gongora,

P. Déchelotte,

Bruno Robert,

Maguy Del Rio,

PierreJean Lamy,

Frédéric Bibeau,

Michelle Nouaille,

Virginie Loriot,

Anne Sophie Jarrousse,

Franck Molina,

Muriel Mathonnet,

Denis Pezet,

Marc Ychou

Publication year - 2014

Publication title -

nature medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.536

H-Index - 547

eISSN - 1546-170X

pISSN - 1078-8956

DOI - 10.1038/nm.3511

Subject(s) - kras , concordance , colorectal cancer , liquid biopsy , cell free fetal dna , medicine , mutation , oncology , mutation testing , digital polymerase chain reaction , cancer , cancer research , polymerase chain reaction , gene , biology , genetics , pregnancy , fetus , prenatal diagnosis

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.

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