Expert Panel Updates Opinion on BRCA Cancer Gene Screening



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(Reuters Health) – BRCA1 and BRCA2 gene mutations are associated with increased risks of breast, ovarian and other cancers, but only some women will benefit from genetic testing, as recommended update of the US Task Force on Prevention Services (USPSTF). ).

"That the disadvantages of risk assessment, counseling, testing and interventions outweigh the benefits, it depends on the risk profile of each woman and her family history," said Dr. Douglas K. Owens, working group member of Stanford University in California, told Reuters Health by email.

"That's why it's important for women concerned about the risk of mutating the BRCA gene to discuss the pros and cons of their treatment with their doctor," he added.

Owens and his colleagues at the USPSTF, supported by the government, have reviewed all available evidence before updating the expert panel's recommendations on risk assessment, genetic counseling and the genetic testing for BRCA-related cancer. The updated documents are published in the journal of the American Medical Association.

"Every step of the process can be complex," said Owen.

As a first step, says USPSTF, women with a personal or family history of breast cancer, ovarian, fallopian or peritoneal (the lining of the abdominal cavity) and women whose ethnic background is associated with a Increased risk of BRCA mutations should: be evaluated with one of the many risk assessment tools. These tools accurately assess the probability of carrying a harmful mutation in any of these genes.

If the risk assessment suggests an increased likelihood of carrying a harmful BRCA gene mutation, the woman should benefit from genetic counseling, or even genetic testing.

"Sometimes it makes sense for a woman to only get an assessment and get counseling, but no genetic testing," Owen said. "It is also important to note that test results are complex and do not always tell a woman definitively if she has a potentially dangerous mutation that can lead to cancer."

The USPSTF recommends genetic testing if a woman's history suggests a potential risk of hereditary cancer, but only to the extent that the test results will help her make a decision regarding an assessment and evaluation. subsequent treatment.

Potential interventions may include more intensive screening for BRCA-related cancers, drugs that may reduce the risk of developing these cancers, as well as surgical procedures that further reduce risk (by removing breasts, ovaries, and fallopian tubes) .

Dr. Susan Domchek of the Basser Center for the BRCAs of the University of Pennsylvania in Philadelphia, co-author of an editorial published with the recommendation, told Reuters Health by email: "Many high-risk people BRCA1 / 2 mutations are not tested Oncologists, primary care physicians, gynecologists, other health care providers and patients should all be aware of the options for genetic testing, and we should all strive together reduce barriers and ensure equitable access to genetic testing. "

Dr. Larissa A. Korde, of the National Cancer Institute, in Rockville, Maryland, who co-authored another editorial, told Reuters Health, also by e-mail, "I think that awareness Cancer-related family history is key for patients and physicians. " Dr. Korde said. "Knowing which cancers are associated with the BRCA mutation, in both men and women, will successfully identify those who should be tested."

SOURCE: http://bit.ly/2KJUlg6, http://bit.ly/31W1VtX, http://bit.ly/31SYKTw, http://bit.ly/31O2c1S, http://bit.ly/ 31OkEYe and http://bit.ly/31SYQKS JAMA, online August 20, 2019.

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