Angelina Jolie why removal of the breast? BRCA1 gene mutation is the key
Angelina Jolie breast removed to reduce the risk of cancer
American actress Angelina Jolie has announced that they have received prophylactic double mastectomy surgery, the news triggered a widespread concern. Jolie revealed that the reasons for making such a major decision in the New York Times article "My medical choice" in: her mother struggle with breast cancer for many years, is still, unfortunately, died at 56 years old. Her mother was detected with both their own existence gene BRCA1 / 2 mutation, the risk of breast cancer up to 87%, thus chose prophylactic surgery. And opened the matter, designed to call attention to breast cancer, more women early and benefit from.
Angelina Jolie first check for the prevention of breast cancer BRCA1 gene?
The reason why Angelina Jolie would receive prophylactic double mastectomy, because the inherited cancer susceptibility gene BRCA1 mutation from the mother's. Professor Liu Qiang, deputy director of Sun Yat-sen Memorial Hospital, Department of Breast Medical Oncology introduction: "In fact in addition to BRCA1, BRCA2 also closely associated with breast cancer, BRCA1 and BRCA2 Breast Cancer Susceptibility Gene abbreviations are 1/2, that breast cancer susceptibility gene 1 and 2 These two genes are tumor suppressor gene, encoding a protein produced inhibition of tumor cells. has a large number of normal human cells is updated daily, this process will produce a small amount of cancer cells, but these cancer cells will soon be suppressed oncogenes or suppressing the immune system to recognize and kill tumor is not formed. BRCA1 / 2 protein is part of the defense, if they lead to loss of tumor suppressor gene function mutations, breast cancer, ovarian cancer or other cancer incidence will be significantly increased. because they are the first to be discovered in breast cancer, it is called breast cancer susceptibility gene. "
BRCA1 and BRCA2 gene mutations = breast cancer?
Although the BRCA1 and BRCA2 genes have a strong correlation with breast cancer, but not every family history or genetic mutation carrying women will suffer from breast and ovarian cancer, the family appears not all cancer cases are associated with BRCA gene mutations. Notably, familial cancer cases may be due to genetic or environmental factors. Therefore, such a risk assessment sometimes not accurately reflect the general population in BRCA1 and BRCA2 mutation carriers risk level. It is estimated that in the general population, approximately 12.0% of women may develop breast cancer, and about 60% carry deleterious BRCA mutations in women may suffer from breast cancer. In other words, BRCA genes make breast cancer risk increased fivefold. Ovarian cancer, the 1.4% of ordinary women with ovarian cancer risk, BRCA gene mutation causes the risk rises to 15% -40%.
Experts say do not recommend prophylactic surgery to reduce the risk of cancer
Angelina Jolie 87% chance of developing breast cancer this ratio come from?
Dr. Shen Songjie said: "The risk of breast cancer for BRCA1 mutations in addition, there are many factors, such as obesity, fertility, lactation, stress, hormone replacement, etc. Based on these risk factors, and developed a lot of breast cancer risk assessment. model, most notably the United States Gail model, this time Angelina Jolie breast cancer and ovarian cancer risk may be calculated by a similar model. "
Due to the design Gail model is currently only for Americans or Caucasians, and that the living environment and living habits are not the same yellow people effective? Dr. Shen said: "Indeed Chinese women and American women are very different in terms of race, lifestyle, breast cancer incidence rates, simply put the model set in Chinese women who obviously wrong, but the current Beijing Union Medical College Hospital in the country Eleventh Five-funded research project, the United Nations, 14 hospitals, the establishment of a Concorde breast cancer breast cancer risk prediction model based on the characteristics of Chinese women, the satisfactory results obtained in previous applications. "
BRCA1 / 2 gene mutation does not necessarily have after mastectomy
For isolated BRCA1 / 2 gene mutation, the need for like Angelina Jolie as mastectomy surgery? For this unknown risk for surgery, whether it will fall over the treatment? Dr. Shen also expressed their views, since testing positive will not necessarily develop into cancer, and now the incidence of reported data mainly from Europe and the United States, and there is no authoritative data Chinese population, so Shen doctors believe, also tested positive No need to panic, but to pay attention to strengthening the frequency of screening, conduct regular testing. Optional closely observed risk at an early stage resection to cure cancer using tamoxifen and other drugs to prevent, or adjust habits to reduce cancer.
Gland excision just for old furniture, but the whole breast is cut Chaifang Zi
Professor Liu Jiang recommended for BRCA1 / 2 mutations in women should be considered depending on the specific situation, I will and under the guidance of a doctor before considering doing prophylactic mastectomy, so decrease the incidence of breast cancer, but prophylactic mastectomy with the usual mastectomy breast cancer patients should be different, do not have full cut, to minimize the trauma may consider likely to develop breast cancer, mastectomy, leaving the other organizations, including the nipple and skin, and breast reconstruction and so on. This time Angelina Jolie is also using this kind of surgery, retained the nipple and skin, and thereafter implant surgery, leaving only a small scar on the body, but it does not affect the appearance of the breast. If people have a genetic defect resistant mood for surgery, said Professor Liu Qiang, close observation can also choose to be a cure for cancer in the early excision occurs, preventing the use of drugs such as tamoxifen, or adjust habits to reduce cancer risk .
What people need to BRCA1 genetic testing?
Why BRCA1 genetic testing is so important
It is understood 39 Health Net, a high incidence of breast cancer, and is now known BRCA1 and BRCA2 mutations in two genes, if a patient containing both mutations, the chance of breast cancer in their lifetime will be around 80%, age will advance. If the children are also found in breast cancer gene mutations in these two groups, it means also at high risk. Because of this, genetic screening has become one of the means to predict and the high incidence of breast cancer prevention.
Not every woman should be carried out genetic testing BRCA1 / 2 of
Professor Liu Jiang said that not all relatives of breast cancer patients are required to conduct such testing, after consulting the foreign testing required medical geneticist or relevant knowledge to understand the significance and risks related testing. In general, a relative (sister or daughter) has two occurred unilateral breast or ovarian cancer, one of the 50 years of age, or have a risk of bilateral breast cancer, you can line BRCA1 / 2 of genetic testing to see whether the gene mutation to carry a mutation in this gene may lead to opportunities for himself suffering from ovarian cancer and breast cancer was significantly higher. If after testing positive, by some means surgery, helps reduce the risk of drug prevention.
Where in China can provide BRCA1 / 2 gene testing services
At present, China has no such vast majority of hospital clinical services fee, but some hospitals can be detected in the name of scientific research. Professor Liu Jiang said, some domestic companies have provided BRCA1 / 2 gene testing services, only blood can be detected, the cost of 5,000 yuan. (Associate Professor, Union Hospital, Beijing龚晓明mentioned in its micro-Bo, Beijing Union Medical College Hospital could have carried this genetic testing, charging $ 3,000.)
Hereditary breast cancer screening in advance decades
Regular checks to prevent breast cancer is more practical
Breast ultrasound and X-ray methods (mammography) found that a combination of early breast cancer more practical
In the country, is still recommended for women with breast ultrasound and breast X-ray (Mo rake) a combination of methods that can detect early breast cancer. General women aged 40-50 every year to a year and a half to do a professional medical organizations such norms breast specialist and B-ultrasound examination, do you want to listen to the frequency of mammography professional medical advice. And 50 years of age is recommended to do an inspection B ultrasound and mammography annually; increases with age, such as 70 years of age, the frequency of inspections will decrease; 20 to 40-year-old woman should be checked every two to three years time, but this mammography ages should be less or no. For high-risk populations, also need to shorten the inspection interval. Through this close monitoring, early detection of breast cancer can basically.