High mutation burden correlates with defective SC function.
Not exact matches
Mutational signatures reveal
high burdens of aristolochic acid — related
mutations in Asian liver cancers, with Taiwan most intensely affected.
«The good news is that we discovered that a subset of patients who had both
high tumor
mutation burden and
high PDL - 1 positive status did experience a significant benefit from immunotherapy,» says Carbone.
Patients with both
high tumor
mutation burden and
high PDL - 1 positive status had a 75 percent response rate compared with a 16 percent response rate to immunotherapy among patients with low
mutation burden and low PDL - 1.
The combination of rapid but error - prone repair, the authors suggest, leads basal cells to accumulate a
high burden of
mutations that ultimately leads to carcinoma.
«The
burden of
mutations observed is
high but almost certainly none of these clones would have developed into skin cancer,» explains Dr Iñigo Martincorena, first author from the Sanger Institute.
Its characteristically low mutational
burden,
high copy number and structural variants, and unique driver
mutation prevalence are important in helping us understand the natural history of the disease and its response to various therapies.
A total of 244 abnormalities were identified in 79 genes in MCT - associated SCC, and the overall mutational
burden was
high (mean 10.2
mutations per megabase).
Conclusions: Ovarian SCC arising in MCT has a
high mutational
burden with TP53
mutation the most common abnormality.