Common questions

What is the difference between germline and somatic cancer?

What is the difference between germline and somatic cancer?

Somatic testing is done on cancer cells. It can help doctors learn more about your cancer. Germline testing is done on non-cancer cells. It can show if a genetic change is in all of your cells in your body.

How can you distinguish between germline and somatic mutations?

Somatic vs Germline Mutations

  • Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are affected)
  • Germline mutations – occur in gametes and can be passed onto offspring (every cell in the entire organism will be affected)

What is germline and somatic?

​Germ Line A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation. Egg and sperm cells are called germ cells, in contrast to the other cells of the body that are called somatic cells.

What is germline cancer?

Germline mutations, also called hereditary mutations, are passed on from parents to offspring. Inherited germline mutations play an important role in cancer risk and susceptibility. Knowledge of these hereditary mutations can lead to the development of preventive measures to reduce the likelihood of developing cancer.

What is an example of germline mutation?

Germline mutations are the cause of some diseases, such as cystic fibrosis and cancer (eg, breast and ovarian cancer, melanoma). Cystic fibrosis is a hereditary genetic disorder that results in a thick, sticky buildup of mucus in the lungs, pancreas and other organs.

What is an example of a somatic mutation?

Somatic mutations can arise during the course of prenatal brain development and cause neurological disease—even when present at low levels of mosaicism, for example—resulting in brain malformations associated with epilepsy and intellectual disability.

What are some examples of somatic mutations?

Is cancer a germline mutation?

Germline mutations. As the embryo grows into a baby, the mutation from the initial sperm or egg cell is copied into every cell within the body. Because the mutation affects reproductive cells, it can pass from generation to generation. Cancer caused by germline mutations is called inherited cancer.

What are the types of germline mutations?

These mutations include single base pair deletions, insertions, duplications, and amino acid changes. Oxidative damage is another endogenous factor that can cause germline mutations.

What diseases are caused by somatic mutation?

Somatic mutation has also played a role in some neurological diseases, including epilepsy, autism spectrum disorders (e.g., Rett syndrome), and intellectual disability [35], although comparisons of monozygotic twins for multiple sclerosis (MS) have been essentially negative [36].

How are germline and somatic mutations related to cancer?

As the cancer continues to grow, additional changes will occur. Even within the same tumor, cancer cells may have different genetic changes. DNA sequencing techniques can identify both germline and somatic mutations by comparing the sequence of DNA with that in normal cells.

How are germline and tumor testing related to cancer?

Genetic testing in the tumor can be utilized to identify genetic changes in cancer cells that may be driving the growth of an individual’s cancer. This information may help determine which therapies might be most effective for treating a particular malignancy. Information provided by germline and tumor testing may overlap.

Are there any red flags for germline mutations?

Family and personal histories suggestive of germline mutations include: See the sidebar for more red flags that might indicate germline risk. In general, cancer cells have more genetic changes than normal cells, but each person’s cancer has a unique combination of genetic alterations.

Why is it important to test for germline mutations?

Testing for germline mutations, usually performed on blood or saliva, will identify inherited mutations in genes, such as those in the BRCA1/2 genes, and may be performed in people with or without cancer. Tumor testing is a priority because when a person has cancer, it is important to quickly determine which therapy will work best.