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More women could benefit from genetic testing for hereditary breast or ovarian cancer, especially if they have already survived cancer, Tuesday recommended an influential group of health.
The issue in dispute concerns genes called BRCA1 and BRCA2. When they mutate, the body can not also repair the damaged DNA, greatly increasing the risk of breast cancer, ovarian and some other cancers. Genetic testing allows affected women to take steps to reduce their risk, for example when actress Angelina Jolie underwent a preventive mastectomy several years ago.
Most cancers are not caused by mutations in the BRCA gene – they account for between 5% and 10% of breast cancers and 15% of ovarian cancers – so genetic testing is not suitable for everyone . But mutations are clustering within families, and the US Preventative Services Task Force has long recommended that physicians screen for women with BRCA-related parents and refer those who may benefit from breast cancer. a genetic test to a genetic counselor to help them make a decision.
On Tuesday, the task force expanded this advice by advising primary care physicians that they should also assess women's risk if:
- they had previously been treated for breast or other cancers linked to BRCA genes, including ovarian, fallopian, or peritoneal cancers, and are now considered to be cancer free.
- their ancestors are subject to BRCA mutations, such as Ashkenazi Jewish women.
Why screen for breast cancer survivors? After all, they already know that there is a risk of re-offending.
Take, for example, a person whose tumor was removed from a breast in their forties a decade ago, at a time when genetic testing was less common. Even that several years later, a BRCA test could always reveal whether they are at risk for ovarian cancer – or more likely than usual, for another tumor in the remaining breast tissue said Dr. Carol Mangione, a member of the working group of the University of California. , Los Angeles. And this could alert their daughters or other parents of a potential shared risk.
"It's important to test these people now," said Mangione. "We must inform primary care physicians of this assessment and referrals."
Private insurers follow the recommendations of the Preventive Care Task Force to cover, some at no cost under former President Barack Obama's health care law rules. The recommendations were published in the Journal of the American Medical Association.
Cancer groups have similar recommendations for the BRCA test and are increasingly insisting that newly diagnosed people be tested as well, because inherited risk can affect surgical and surgical choices. other treatments.
Identifying carriers of the BRCA mutation "can save lives, and should be part of routine medical care," Drs. Susan Domchek of the University of Pennsylvania and Mark Robson of the Memorial Sloan Kettering Cancer Center, who did not participate in the new guidelines, wrote in an editorial accompanying them.
But too few high-risk women ever learn if they carry mutations of BRCA, they write. For example, cancer groups have long recommended that all patients with ovarian cancer be tested, but several studies have shown that tests are performed in less than a third of cases.
Do not skip genetic counseling, said Mangione from the working group. BRCA tests can cause anxiety and sometimes confused results, finding mutations that may not be dangerous – things that counselors are trained to interpret. There is a shortage of genetic counselors, especially in rural areas, and she said that telephone counseling can be effective.
There is a wide range of gene tests, some only looking for mutations of BRCA and others testing dozens of additional genes at the same time. There is even a consumer kit sold by 23andMe, but Domchek and Robson warned that it only detected the three most common mutations among women of Ashkenazi Jewish descent, and not tens of people. ;other.
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