10 Influential Entrepreneurs in Healthcare-articles

BRCA Gene Mutation

Influential Entrepreneurs in Healthcare art2

What is BRCA?

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are proteins that aid in the repair of damaged DNA. Each of these genes is passed down in two copies, one from each parent. BRCA1 and BRCA2 are referred to as tumor suppressor genes because they can cause cancer when they have damaging (or pathogenic) variants (or mutations).

People who inherit deleterious variations in one of these genes have a higher risk of developing a variety of malignancies, including breast and ovarian cancers, as well as a variety of other cancers. People who inherit a deleterious variation in BRCA1 or BRCA2 are more likely to get cancer at an earlier age than those who do not.

A deleterious BRCA1 or BRCA2 mutation can be passed down from either parent. Each kid of a parent who carries a mutation in one of these genes has a 50% probability of inheriting the mutation (or 1 in 2 chance). Inherited mutations, also known as germline mutations or variations, are present in all cells of the organism from birth. Even if a dangerous variant in BRCA1 or BRCA2 was acquired from one parent, they would have inherited a normal copy of that gene from the other parent (since embryos with a harmful variant from each parent cannot grow in most situations). However, during a person’s lifespan, the normal copy might be lost or changed in various cells in the body. A somatic alteration is a term for such a transformation. Without working BRCA1 or BRCA2 proteins, cells can expand out of control and become cancerous.

Breast Cancer

Breast cancer affects approximately 13% of women in the general population at some point in their life. By contrast, by the age of 70–80 years old, 55–72 percent of women who inherit a detrimental BRCA1 variant and 45–69 percent of women who inherit a hazardous BRCA2 variant would have developed breast cancer. The risk for every given woman is determined by a variety of factors, some of which are still unknown.

Women with deleterious BRCA1 or BRCA2 mutations have an increased risk of developing cancer in the opposite (contralateral) breast in the years following a breast cancer diagnosis, just as women with breast cancer in general. Depending on the gene implicated, the chance of contralateral breast cancer rises with time after the initial breast cancer, reaching 20%–30% at 10 years and 40%–50% at 20 years.

BRCA Gene test

This test determines whether you have a mutation in the BRCA1 or BRCA2 genes. A BRCA gene mutation raises your chances of developing cancer. A tiny needle will be used to obtain a blood sample from a vein in your arm by a health care provider. A small amount of blood will be collected into a test tube or vial once the needle is inserted. When the needle goes in or out, it may sting a little. It normally takes less than five minutes to complete this task.

Several methods are used for the detection of mutation which includes :

  • Enzymatic mutation detection (EMD)

  • Multiple-dye cleavase fragment length polymorphism (MD-CFLP) Fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE)

  • RNA-based sequencing, restriction endonuclease fingerprinting-single strand conformation polymorphism (REF-SSCP)

  • Stop codon (SC) assay

  • Denaturing high-performance liquid chromatography (DHPLC).

Sources and references : https://www.cdc.gov

Comment here