BRCA1 and BRCA2 are well known Breast Cancer (BC) associated genes that has been discovered in 1990s and usually are tested to assess the individual BC risk. What we can learn about them? Both BReast CAncer (BRCA) genes are considered tumour suppressor genes because are involved in a cellular process that prevent cells transformation to cancerous cells. The BRCA1 and BRCA2 proteins participate in DNA repair, a natural process that occurs frequently in our cells nucleus more than we though, maintaining DNA integrity after DNA damage. Mutations in the BRCA1 and BRCA2 genes results in predisposition of BC and contributes to the risk of other types of cancer such as ovarian, prostate, pancreas, stomach and skin.
Are BRCA2 and BRCA1 the same gene?
The BRCA2 and BRCA1 genes are in different chromosomes, 13 and 17 respectively. Both produce two large proteins that were targeted to the DNA beak sites and interact with other molecules regulating DNA repair. There is growing evidence that other genes that participate in the response of DNA repair can modulate the BC and other cancer types, to a greater or lesser extent. For example, ATM, CHECK2 and PALB2 genes.
Familial breast and ovarian cancer is consistently estimated to be higher in females that carry BRCA1 pathogenic variants than in carriers of BRCA2 pathogenic variants. Whereas in male is different, mutations in BRCA2 are considered the principal genetic risk factor of male BC risk. Although BC is rare in males, BRCA1 and BRCA2 testing is recommended due to its contribution prostate cancer risk.
What do the experts say regarding BRCA1 and BRCA2?
Some experts aim to testing BRCA1 and BRCA2 genes of young women in order to prevent BC and other related cancers. Furthermore, detection of BRCA1 and BRCA2 pathogenic mutations helps to guide cancer treatment, the US Food and Drug Administration approved recently several chemotherapeutic agents that are more effective to treat patients with loss of functional BRCA1 or BRCA2 proteins.
More and more oncologists are looking for a family history of breast and ovarian cancer, routinely request the analysis of these genes to know the risk of their patients. There are some localized mutations in these genes that are considered pathogenic and in which preventative surgical measures should be taken preferentially. However, when this analysis is negative it reassures families to have this information.
TellmeGen’s DNA test kit analyses BRCA1 and BRCA2
TellmeGen test analyse relevant selected BRCA1 and BRCA2 germline variants that can affect their function and can be transmitted to the offspring providing useful information during BC prevention. It is important to consider that there are other pathogenic variants in both genes that we do not test, this means that negative results do not exclude the possibility of carrying another pathogenic BRCA variant, among the more than 1,000 described in the scientific databases. Furthermore, testing positive results should be confirmed with a physician before taking actions.
Researchers work with the development of mathematical models that combine the risks and in the molecular understanding of the cancer development to improve the overall BC risk estimation. Population, family history and environmental and lifestyle factors such as drinking alcohol and lack of physical activity should be taking in account to approach the individual BC risk.
BRCA1 and BRCA2: Check out our DNA Test kit on Amazon now!
The goal of TellmeGen is to make genetic information accessible to everyone from anywhere in the world with an Internet connection to share it with your trusted medical professional.
For this we have developed a platform that stores, interprets and updates the genetic information.
We provide more than 400 items of genetic information, and among them is the analysis of these two genes (BRCA1 and BRCA2) in the section on breast and ovarian cancer.
The platform is in Spanish, English and French. In addition, we support Amazon in all those English-speaking markets to reach as many patients and users as possible.