People with BRCA1 and BRCA2 gene mutations have a 6-fold increased risk of breast cancer by age 80, and may also develop the disease earlier, so screening tests are recommended.
BRCA gene mutation testing uses blood to analyze DNA to identify harmful mutations in one of two genes susceptible to breast cancer, BRCA1 and BRCA2. Dr. Do Anh Tuan (Breast Surgery Department, Tam Anh General Hospital, Ho Chi Minh City) said that BRCA gene mutation testing is used for people who are likely to have genetic mutations based on personal or family history of breast cancer and ovarian cancer; it is not routinely performed on people at average risk of breast and ovarian cancer. The two main groups of people at risk of the disease and should have this genetic test include:
Women diagnosed with breast cancer: Not all women with breast cancer need genetic counseling and testing. However, genetic counseling and testing are helpful for women diagnosed with breast cancer at a young age; triple-negative breast cancer (also called triple-negative breast cancer, testing negative for three receptors: estrogen, progesterone, HER2); a diagnosis of a second breast cancer (not a first recurrence); a family history of breast cancer (especially at a younger age or in men), ovarian cancer, pancreatic cancer, or prostate cancer.
Family history: People with a known family history of BRCA gene mutations or other gene mutations.
BRCA1 and BRCA2 gene mutations significantly increase the risk of breast cancer. Photo: Freepik
Genetic counseling and testing may also be recommended for people at high risk for inherited gene mutations, Dr. Tuan added. These groups include: women diagnosed with ovarian or pancreatic cancer or men diagnosed with breast, pancreatic or prostate cancer or metastatic cancer. People with a family history of breast cancer at a young age, multiple family members with breast cancer or a male family member with the disease; people with a family history of ovarian cancer, pancreatic cancer or metastatic prostate cancer may also consider genetic testing.
Everyone is born with two copies of the BRCA1 and BRCA2 genes, one from their mother and one from their father. Normally, the BRCA1 and BRCA2 genes are responsible for repairing damaged DNA. Mutations in the BRCA1 and BRCA2 genes prevent them from working properly. People with these mutations are at increased risk of developing breast cancer, ovarian cancer, and other cancers. However, not everyone with a BRCA1 or BRCA2 mutation will develop breast or ovarian cancer.
According to Dr. Tuan, when it comes to breast cancer risk, the most important inherited gene mutations are the BRCA1 and BRCA2 gene mutations, which significantly increase the risk of breast cancer. People with BRCA gene mutations are six times more likely to develop breast cancer by age 80 than the general population. At an earlier age, cancer can still develop and is more likely to affect both breasts.
Women or men with mutations in this gene may develop hereditary breast and ovarian cancer syndrome. Women with BRCA gene mutations have a higher risk of breast cancer, as well as an increased risk of ovarian cancer, pancreatic cancer, and possibly some other cancers. Men with BRCA gene mutations have a higher risk of breast cancer (although the risk is lower than in women), prostate cancer, pancreatic cancer, and possibly some other cancers.
Duc Nguyen
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