The defective BRCA1 gene was the cause of Angelina Jolie's preventive mastectomy. Is BRCA1 mutation really so dangerous? Who should get genetic testing?
The defective BRCA1gene occurs in one in 1000 patients diagnosed withbreast cancer . However, among women who carry the mutant gene, the risk of developing cancer is as high as 30-80 percent for breast cancer, 11-40 percent for ovarian cancer, and about 10 percent for tubal and peritoneal cancer.
Defective BRCA1 gene: hereditary mutation
The BRCA1 mutation is an inherited mutation, therefore women with a family history of ovarian and breast cancer in women and colon, prostate or breast cancer in male ancestors are at particular risk. It should be remembered that the presence of a gene mutation does not always result in cancer.
Defective BRCA1 gene: who should be testing?
The BRCA1 mutant gene detection test should be done by every woman over 25 years of age with a family history of even one breast or ovarian cancer. It is also worth doing it when there were no such people. The defective BRCA gene can be inherited from both the mother and grandmother - also from the father, who, without suffering from breast cancer, mediates the transmission of defective genetic material. Women who should decide to take the tests:
- family history of malignant tumors
- family history of breast or ovarian cancer before the age of 50
- use contraception
- have any changes in their breasts
Defective BRCA1 gene: where to test?
The test for the presence of the defective BRCA1 gene can be performed in laboratories all over Poland. However, it is best to do it in one of the oncology genetic clinics. You do not need a referral to take this test. If you belong to the group of patients with hereditary burden, you can do it for free, if you are not at risk, you will have to pay about PLN 300. You can find addresses of the clinic at www.genetyka.com. If the test result confirms the presence of the mutated geneBRCA1, you should undergo regular examinations and strictly follow the doctor's instructions.