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Accession PRJCA004800
Title Characteristics of pan-cancer patients with ultrahigh tumor mutation burden
Relevance Medical
Data types Targeted Locus (Loci)
Organisms Homo sapiens
Description Tumor mutation burden has been proven to be a good predictor for the efficacy of immunotherapy, especially in patients with hypermutation. However, most research focused on the analysis of hypermutation in individual tumors, and there is a lack of integrated research on the hypermutation across different cancers. This study aimed to characterize hypermutated patients to distinguish between these patients and nonhypermutated patients. Among the 5,980 tumor samples, 1,164 were selected as samples with hypermutation. Compared with the nonhypermutated group, a significant increase in the mutation rates of DNA mismatch repair genes and polymerase genes was detected in the hypermutated group, and there was an overlap between high TMB and high microsatellite instability or high PD-L1. In addition, we found that EGFR, KRAS and PIK3CA had a high frequency of both single nucleotide variation and copy number variation mutations. These identified mutant genes were enriched in the oncogenic signaling pathway and the DNA damage repair pathway. At the same time, the somatic cell characteristics and distribution of the two groups were significantly different.
Sample scope chinese pancancer human cohort of panel sequencing
Release date 2021-03-25
Grants
Agency program Grant ID Grant title
No funding support
Submitter Ji He (he.ji@genecast.com.cn)
Organization Company Name: Genecast Biotechnology Co., Ltd
Submission date 2021-03-25

Project Data

Resource name Description
BioSample (11528)  show -