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Patients with high-risk breast cancer fail to undergo genetic testing

Issuing time:2020-10-24 10:54

Among all newly diagnosed breast cancer patients, only a small percentage may be at risk of serious complications from malignant mutations. For these patients, genetic testing is widely available. However, the latest research shows that very young girls will use this tool for early prevention and early detection.


It is currently estimated that less than 10% of patients who have just been diagnosed with breast cancer have been tested for malignant mutations in the BRCA1 or BRCA2 genes.


In healthy individuals, these genes produce much-needed tumor suppressor protein, a protein that helps repair damaged DNA. However, when these genes fail to function normally or undergo malignant mutations, DNA is not easy to recover on its own, and additional cancer cells may be produced.


        Therefore, genetic mutations may increase the risk of ovarian cancer or triple-negative breast cancer-both of which are particularly aggressive. In addition, BRCA1 and BRCA2 gene mutations have been determined to be related to female fallopian tube cancer and peritoneal cancer. Men with these mutations are also at risk of developing prostate cancer. Some studies have shown that men and women with such mutations are more likely to develop pancreatic cancer.


Genetic testing can be used for people who are at risk of reversibly developing such malignant mutations. A simple blood or saliva test is sufficient to determine whether a patient has inherited such mutations. In 2013, the US Preventive Services Task Force recommended genetic testing for patients with a family history of breast, ovarian, fallopian tube, or peritoneal cancer.


        However, the latest research shows that most doctors do not recommend genetic mutation testing for high-rank women.


        The new research was conducted by Dr. Allison Kurian, associate professor of medicine and health research and policy at Stanford University. The research results were published in JAMA magazine.


       “We don’t have a crystal ball, but genetic testing is a powerful tool for some women. It’s worrying to see that so many women at high risk of mutation have failed to even conduct a genetic-related counseling activity. Can be recommended for genetic mutation testing," Jagsi said.


        Another senior author of the study, Dr. Steven Katz, also professor of medicine and health management and policy at the University of Michigan, said: “Many women do not receive genetic testing after being diagnosed with breast cancer. This is an important example of Precision medicine is pushing the challenge of the examination room.” Lead researcher Kurian attributed the lack of doctors’ recommendations for genetic mutation testing to the lack of understanding of the benefits of this preventive tool.


        The above content is reproduced from: Noble.




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