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Association details:
Biomarker:MSH6 T1219I
Cancer:Colorectal Cancer
Drug:temozolomide (DNA synthesis inhibitor)
Direction:Sensitive
Evidence:
Evidence Level:
Sensitive: C3 – Early Trials
Title:

Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients

Published date:
07/06/2022
Excerpt:
Multiple alterations in the nucleotide context favored by the TMZ signature emerged in MMR genes, and the p.T1219I MSH6 variant was detected in ctDNA and tissue of 94% (16/17) of the cases….Overall, these results indicate that in colorectal cancer, the p.T1219I MSH6 mutation emerges at a very high frequency (94%) as a molecular response marker to extended exposure to TMZ....In addition, we have highlighted the MSH6 p.T1219I variant as a potential marker for TMZ molecular efficacy in colorectal cancer.
DOI:
https://doi.org/10.1158/2159-8290.CD-21-1434