20 13 Angelina Jolie, a famous Hollywood movie star, publicly wrote in the media that her mother died of ovarian cancer at the age of 56, and she was a high-risk group of cancer. In order to find out her cancer risk, she underwent BRCA genetic testing. The results showed that her DNA had BRCA gene variation of familial breast cancer/ovarian cancer. In order to prevent cancer, preventive resection and follow-up treatment were carried out to reduce the risk of breast cancer to less than 5%.
In Taiwan Province Province, according to the data of national health institutions, there were 4642 new cases of breast cancer in 2000, 6594 cases in 2005, 9655 cases in 2065 and 1 case in 438+00. On the other hand, the new cases of ovarian cancer were 79 1 in 2000, 93512 in 2005,113 in 20 12. It can be seen that the incidence of breast cancer and ovarian cancer in Taiwan Province Province continues to rise.
BRCA gene mutation may give cancer warning. Among all gynecological malignant tumors, ovarian cancer has the highest mortality. The formation of ovarian cancer and breast cancer is related to some special gene variations, among which BRCA 1 has the strongest correlation with BRCA2 gene. According to research statistics, if women have BRCA 1 gene mutation, 80% will suffer from breast cancer and 63% will suffer from ovarian cancer before the age of 70; If there is BRCA2 gene mutation, 80% will get breast cancer before the age of 70, and 5% of men will get breast cancer before the age of 70. Generally speaking, BRCA gene mutation accounts for about 5~ 10% of breast cancer cases and 15% of ovarian cancer cases.
About half of these familial breast cancer patients were found to have breast cancer before the age of 40, which is only 5% compared with ordinary women before the age of 40. The average age of these familial breast cancer patients is about ten years earlier than that of ordinary women. According to statistics, in the general population, there are about 1 person with BRCA 1 or BRCA2 gene mutations in every 200 people, while in the familial or early-onset breast cancer population, the incidence of BRCA 1 or BRCA2 gene mutations is as high as 30%~50%. In view of this, gene detection of BRCA 1/BRCA2 is really necessary.
BRCA 1 or BRCA2 gene is autosomal dominant inheritance, that is, in the so-called familial breast cancer/ovarian cancer syndrome, once the gene mutates, all members of the family have a 50% chance to carry the mutant gene. In these families, breast cancer will continue to attack family members in these families, such as mothers, sisters, daughters, grandmothers or menstruation (which also happens in men).
At the same time, the proportion of ovarian cancer and endometrial cancer in these families has also increased relatively. Therefore, for those members who have a family history of breast cancer, it is quite meaningful to find out the existence of BRCA 1/BRCA2 mutation, or to find out whether BRCA 1 or BRCA2 mutation is a high-risk family member of breast cancer or ovarian cancer. Genetic testing can help us find out the real high-risk individuals in these high-risk families.
In addition, for breast cancer patients, if the genetic variation of BRCA 1 and BRCA2 is detected, close follow-up should be conducted to prevent the occurrence of breast cancer lesions on the other side and the possibility of other cancers such as ovarian cancer.
According to the clinical evaluation criteria for reducing cancer risk by early detection of BRCA gene with a history of cancer genetic diseases, the following situations belong to high-risk groups, and it is strongly recommended to accept BRCA 1/BRCA2 gene detection:
1. Women themselves have breast cancer (under 50 years old), and more than one person in the family also has ovarian cancer. 2. Women themselves suffer from breast cancer (regardless of age), and more than two people in their families also suffer from ovarian cancer. 3. Women have ovarian cancer, fallopian tube cancer or peritoneal cancer. 4. Women have pancreatic cancer, and more than two people in the family have ovarian cancer, breast cancer or pancreatic cancer. 5. There is a man with breast cancer at home. 6. Patients with early-onset breast cancer (under 40 years old) and their families.
Of course, if circumstances permit, from the perspective of preventive medicine, ordinary healthy women can also accept this genetic test. If there are high-risk groups in the above situation, it is recommended to seek advice and help from professional medical personnel. At present, as far as breast cancer and ovarian cancer are concerned, many patients have received BRCA gene testing, which provides important biological information for patients and their families, and also provides doctors with guidelines for subsequent diagnosis and treatment.
This abstract is selected from the March issue of Biomedical Viewpoint.
Subject: BRCA, breast cancer, ovarian cancer, gene detection, gene technology, cancer treatment, precision medicine.