Tumour mutational burden (abbreviated as TMB) is a genetic characteristic of tumorous tissue that can be informative to cancer research and treatment. It is defined as the number of non-inherited mutations per million bases (Mb) of investigated genomic sequence, [1] and its measurement has been enabled by next generation sequencing.

2023年8月7日 · Our findings reveal significant variations in the frequency of cancer gene mutations across different cancer types and highlight the frequent involvement of tumour suppressor genes (94%),...

Mutations are abnormal changes in the DNA of a gene and can sometimes lead to cancer. Find out common causes.

TMB, defined as the number of somatic mutations per megabase of interrogated genomic sequence, varies across malignancies. Panel sequencing-based estimates of TMB have largely replaced whole exome sequencing-derived TMB in the clinic.

COSMIC, the Catalogue Of Somatic Mutations In Cancer, is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer. Start using COSMIC by searching for a gene, cancer type, mutation, etc. below.

2024年8月27日 · Tumour mutational burden (TMB), reflecting the number of mutations present in the DNA of a tumour, is a biologically appealing biomarker of a response to immune-checkpoint inhibitors (ICIs).

2024年8月8日 · Scientists have found hundreds of DNA and genetic changes (also called variants, mutations, or alterations) that help cancer form, grow, and spread. Cancer-related genetic changes can occur because: DNA changes, whether caused by a random mistake or by a carcinogen, can happen throughout our lives and even in the womb.

2020年8月10日 · In this Review, we present the Integrative OncoGenomics (IntOGen) pipeline, an implementation of such an approach to obtain the compendium of mutational cancer drivers. Its application to somatic...

The tumor mutation burden is the number of changes (called genetic mutations) found in the DNA of cancer cells. Also known as tumor mutational burden, TMBs are biomarkers that may help doctors see how well a patient responds to medical treatment.

We illustrate the distributions of mutation frequencies, types and contexts across tumour types, and establish their links to tissues of origin, environmental/carcinogen influences, and DNA repair defects.