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Genes control how cells operate by producing proteins. Proteins have specific functions and act as messengers for the cell.

Each gene must have the right instructions to produce proteins. This allows proteins to perform the right function for the cell.

All cancers begin when one or more genes in a cell mutate. A mutation is a change. It creates an abnormal protein or may prevent the formation of a protein.
An abnormal protein provides different information than a normal protein. This may cause cells to multiply uncontrollably and become cancerous.

About genetic mutations

There are 2 basic types of genetic mutations:

Acquired mutations; These are the most common cause of cancer. They arise from damage to genes in a particular cell throughout a person’s life. For example, this may be a breast cell or a colon cell. This cell then divides several times and forms a tumor. A tumor is an abnormal mass. Cancer caused by acquired mutations is called sporadic cancer. Acquired mutations are not present in every cell in the body and are not passed down to new generations.

Factors that cause these mutations include:

  • Tobacco products
  • Ultraviolet (UV) radiation
  • Viruses
  • Age

Germline mutations; These are less common. A germline mutation occurs in spermatozoa or egg cell. It passes directly from one parent to the child at the time of conception. As the embryo grows into a baby, the mutation from the first sperm or egg cell is copied into each cell in the body. It can pass down to new generations since the mutation affects reproductive cells.

Cancer caused by germline mutations is called hereditary cancer. Germline mutations account for about 5% to 20% of all cancers.

Mutations and cancer

Mutations occur frequently. A mutation can be beneficial, harmful, or neutral.  This depends on where the gene mutates. Typically, the body corrects most mutations.

One mutation is unlikely to cause cancer. Cancer often arises from multiple mutations over a lifetime. Therefore, cancer is more common in the elderly.

Cancer-related gene types

Most of the genes that contribute to cancer development fall into broad categories:

-Tumor suppressive genes; These are protective genes. Normally, they limit cell growth as follows:

  • Monitoring how quickly cells will divide into new cells
  • Repairing unmatched DNA
  • Checking when a cell dies

Cells grow uncontrollably when a tumor suppressor gene mutates. And eventually, they will form a tumor.

Examples of tumor-suppressive genes include BRCA1, BRCA2, and p53 or TP53.

-Germline mutations in the BRCA1 or BRCA2 genes increase a woman’s risk of developing hereditary breast or ovarian cancer and a man’s risk of developing hereditary prostate or breast cancer. They also increase the risk of pancreatic cancer and melanoma in both women and men.

-The most common mutated gene in people with cancer is p53 or TP53. More than 50% of cancers contain a missing or damaged p53 gene. In most of them, p53 gene mutation is obtained. Germline p53 mutations are rare, but patients with them are at higher risk of developing many different types of cancer.

-Another gene that produces a protein that suppresses tumor growth is PTEN. Mutations in this gene are associated with an inherited disorder, Cowden syndrome that increases breast, thyroid, endometrial, and other types of cancer.


Kindly consult our center for more genes that may play a role in hereditary cancer syndromes…

-Oncogenes; These transform a healthy cell into a cancer cell. Mutations in these genes are not known to be hereditary.

Two common oncogenes are:

HER2 is a special protein that controls cancer growth and spread. It is found in some cancer cells. For example, breast and ovarian cancer cells.

RAS is a family of related proteins that activate proteins involved in cellular signal transduction, cell growth, and cell death.

DNA repair genes; These correct mistakes made when DNA is copied. Many function as tumor-suppressive genes. BRCA1, BRCA2, and p53 are all DNA repair genes.

If a person has a defect in the DNA repair gene, the mistakes remain uncorrected. Then mistakes turn into mutations. These mutations can eventually lead to cancer, especially mutations in tumor-suppressive genes or oncogenes.

Mutations in DNA repair genes may be hereditary or acquired. Lynch syndrome is an example of an inherited disorder type. BRCA1, BRCA2, and p53 mutations, and their associated syndromes, are also hereditary.

Difficulties in understanding cancer genetics

Researchers have learned a lot about how cancer genes work. However, many cancers are not associated with a specific gene. Cancer generally involves multiple gene mutations. Moreover, some evidence suggests that genes interact with their environment. This complicates our understanding of the role genes play in cancer.

Therefore, a study covering all branches on diagnosis and treatment of the patient is required upon the multidisciplinary study of health branches such as Oncology, Pathology, Genetics, etc.

Cancer genetics studies are intensively conducted with Geneticists, laboratory personnel staff, and bioinformatics experts in the DNA Laboratories Genetic Disorders Assessment Center.

You can review our test list or contact us for further information and panel contents about the tests.


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