What are the BRCA1 and BRCA2 genes? The BRCA1 and BRCA2 genes are a class of tumor suppressor genes that ensure the stability of a cell’s genetic material (DNA) and prevent cell growth mutations. Mutations in them are associated with the development of hereditary breast and ovarian cancers. However, it is important to clarify that not all genetic changes or mutations are harmful. Some mutations may be beneficial and neutral, while harmful mutations can increase the risk of cancer. Tang Xin, Department of Breast Medicine, Beijing Maternity Hospital If a woman inherits a harmful mutation in BRCA1 or BRCA2, she has a greatly increased risk of developing breast and ovarian cancer, and it also runs in families. Also, harmful BRCA2 mutations may increase the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cell cancer, melanoma, male breast cancer, and other cancers. Angelina Jolie’s medical statement: Why did I have both mammary glands removed? What does preventive mastectomy mean? How does it differ from a mastectomy for breast cancer patients? There are five types of mastectomy, of which nipple-sparing/subcutaneous mastectomy is the prophylactic mastectomy that Jolie performs, preserving the areola and nipple and reconstructing the breast with a filler. For women with the BRCA1/2 gene mutation, the lifetime risk of developing breast cancer is 80 percent. Prophylactic mastectomy in such women can reduce the incidence of breast cancer by 93%. And Jolie’s likelihood of developing breast cancer after surgery was reduced from 87% to 5%. Therefore, for Jolie, the “sacrifice” may be worth it. What is the BRCA1 gene test? There are many different methods of testing for the BRCA1 and BRCA2 genes. Most of them are direct tests for DNA variants, but some are also tests for mutated proteins. In the future, multiple methods
The trend is to combine multiple methods. All the patient has to provide is a blood sample and a wait of several weeks. Genetic testing is preceded by a genetic history check by a specialist, including personal and family history, to explain to the patient the need, process and accuracy of genetic testing.
The need for the test, the process and the accuracy. The results may be positive, negative, or inconclusive. A standardized consultation should also address the psychological assessment, the significance of the test results and the possible impact on the tested child. How do I consider if I should be tested for a BRCA mutation? If a first- or second-degree relative has ovarian cancer or breast cancer under the age of 50, genetic testing for BRCA1/2 is recommended to find out if there is a mutation carried in the gene that may cause a significantly higher chance of developing ovarian and breast cancer in the person. If the test is positive, some means such as surgery and chemotherapy can help reduce the risk of cancer. This genetic test is now available for $3000-4000. Patients with high-risk breast cancer/positive BRCA mutation: What are the options other than prophylactic resection? The preventive measures for high-risk patients are early screening, mammogram, ultrasound, self-examination, early diagnosis and early treatment. Oral medication to inhibit estrogen secretion First, diet is important, you should eat more healthy food, and meat food should be avoided some hormone-containing food. Second, try to eat less exotic or anti-seasonal fruits, because such fruits contain preservatives, which have a great impact on the human body. Third, less angry and less stay up late. The reason is that only less anger and less staying up late can protect the ovarian function, once the ovarian function is smooth, it can reduce the chance of disease. The fourth, a calm and peaceful life. Don’t be too heavy in the heart of gain and loss, a light-hearted life attitude can keep you away from breast cancer.