What is a somatic mutation in cancer?
(soh-MA-tik myoo-TAY-shun) An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
What is an example of a somatic mutation?
McCune-Albright syndrome is often cited as an example of a severe disease caused by somatic mutation (in the gene encoding the guanine nucleotide binding protein, alpha stimulating, GNAS1) but not seen as familial inherited cases, which is likely due to the incompatibility of inherited mutations with embryonic …
What happens if there is a mutation in a somatic cell?
The mutation affects all cells descended from the mutated cell. A major part of an organism, such as the branch of a tree or a complete tissue layer of an animal, may carry the mutation; it may or may not be expressed visibly. Somatic mutations can give rise to various diseases, including cancer.
How many somatic mutations are in cancer?
The mutated genes that are causally implicated in cancer development are known as ‘cancer genes’ and more than 350 have thus far been identified (ref.
What is somatic sequencing?
Sequencing studies have revealed genetic variations among cells within an individual, referred to as “somatic variance.” This information can be used to study the genome evolution during the lifespan of an individual [2] and outline specific mutagenic processes that promote the transition from a normal to a cancer cell …
What are the criteria used in classification of the different somatic tissues?
We identified four considerations in classifying somatic variants in cancer-associated genes: (i) current evidence for clinical actionability; (ii) primary site and tumor histology in which the variant is found; (iii) pathogenicity; and (iv) variant recurrence in cancer.
What are the types of mutation in somatic cells?
Somatic mutations are not reduced to point mutations but can be any genomic variation: repeats, deletions, insertions, multiplication, loss of copy number, and others. Chromosomal somatic mutations occur when somatic cells divide.
Why are somatic mutations important?
Somatic mutations are important in the diversity of the antibodies, T cell receptors, and B cell receptors. They are frequently caused by environmental factors and accumulate in the DNA of any organism despite proficient DNA repair mechanisms.