Genetic Testing Unveils Cancer Risks for BRCA1 and BRCA2 Mutations in Women

TAIPEI, TAIWAN, Mar.31, 2022 - This March, we celebrate Women’s History Month to recognize and honor the significant contributions and experiences of women today and throughout history. It is also an opportunity to raise the awareness of women's healthcare. Cancer is one of the most prevalent life-threatening diseases in the world, especially the BRCA1 and BRCA2 are the most well-known genes linked to Breast Cancer and Ovarian Cancer which are two harmful cancers in women.

BRCA1 and BRCA2 are genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and play a role in ensuring the stability of the cell’s genetic material. When these genes are mutated, or altered, it has higher potential that makes incorrect furcation so the DNA damage may not be repaired properly. As a result, cells are more likely to generate additional genetic alterations that can lead to cancer.

Breast Cancers and Ovarian Cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages. A harmful BRCA1 or BRCA2 mutation can also be inherited from the parents. A woman’s risk of developing Breast and/or Ovarian Cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. It is also related to her family history of Breast, Ovarian, and other cancers. In addition, men with BRCA1 and BRCA2 mutations are at increased risk of Breast Cancers, Prostate Cancer, and both men and women may be at more risk of Pancreatic Cancer.


To detect BRCA1 and BRCA2 mutation, genetic testing is the most efficient way. The clinicians would recommend genetic testing panels, which included several genes, or an exome sequencing to see more genes. Genetics testing for Inherited cancer syndromes informs clinical decision making and assists in the prevention of adverse health outcomes.


For those women who have detected BRCA1 or BRCA2 from their genetics testing, they can manage cancer risks through annual magnetic resonance imaging (MRI) screening. A study suggests that annual MRI screening should be considered from age 25 or 30 years for Breast Cancer. MRI uses strong magnets instead of radiation to make very detailed, cross-sectional pictures of the body. An MRI scanner takes pictures from many angles. It creates pictures of soft tissue parts of the body that would sometimes be hard to see using other imaging tests. However, scientists are looking for more effective methods of Ovarian Cancer screening. As Ovarian Cancer is the most lethal gynecologic malignancy, several options include prophylactic (risk-reducing) surgery, and chemoprevention are available for managing Ovarian Cancer risk. A paper published by researchers at the University of Helsinki has uncovered new evidence about how Ovarian tumor cells interact with the immune system. This discovery helps the researchers understand how tumor genes trick the immune system so that they are able to develop more effective ways to treat Ovarian Cancer at its early stage.


Research studies are being conducted to find new and better ways of detecting, treating, and preventing cancer in people who carry mutations in BRCA1 and BRCA2. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly, thanks to the progress of NGS technologies. Having healthy behaviors also can go a long way toward improving your health and lowering your risk of many cancers as well. Stay healthy, and stay happy!


References

[1] Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants


[2] Spatial Proteomics Uncovers Ovarian Tumor Interaction with Immune System


[3] BRCA Gene Mutations: Cancer Risk and Genetic Testing



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