2024年8月8日 · Multiple kinds of genetic changes can lead to cancer. One genetic change, called a DNA mutation or genetic variant, is a change in the DNA code, like a typo in the sequence of DNA letters. Some variants affect just one DNA letter, called a nucleotide. A nucleotide may be missing, or it may be replaced by another nucleotide.

Genetic mutations can change how proteins and cells function. This infographic outlines how proteins are made from genes and explains certain types of genetic mutations that are found in cancer.

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.

Genetic testing looks for specific inherited changes (sometimes called mutations or pathogenic variants) in a person’s genes that may increase the risk of diseases such as cancer. About 5%–10% of all cancers are thought to be caused by harmful genetic changes that …

2024年8月23日 · Cancer Genetics Overview discusses hereditary cancers and the role of genetic variants (mutations). Get information about genetic counseling, familial cancer syndromes, genomic sequencing, germline and somatic testing, ethical and legal issues and more in this summary for clinicians.

2020年3月6日 · Driver mutations in cancer-related genes (which promote the development and spread of tumors), including TP53 and KRAS, were very likely to occur early in cancer development, regardless of cancer type.

DNA repair genes are involved in fixing damaged DNA. Cells with mutations in these genes tend to develop additional mutations in other genes and changes in their chromosomes, such as duplications and deletions of chromosome parts. Together, these mutations may cause the cells to become cancerous.

The Cancer Genome Atlas (TCGA) is a landmark cancer genomics program that sequenced and molecularly characterized over 11,000 cases of primary cancer samples. Learn more about how the program transformed the cancer research community and beyond.

2017年5月10日 · Our analysis takes an input gene and retrieves all of the mutations recorded for that gene per sample for each tumor type within TCGA. For the purposes of this analysis, we included protein-changing mutations such as frame-shifts and non-synonymous substitutions.

2017年5月31日 · DNA sequencing tests can identify genetic mutations that drive an individual patient’s cancer growth or development, which can help clinicians determine the most appropriate treatment.