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Expert Panel Updates BRCA Cancer Gene Screening Tips



(Reuters Health) – Mutations in the BRCA1 and BRCA2 genes are associated with an increased risk of breast, ovarian and other cancers, but only some women are able to benefit from genetic testing, according to updated task recommendations. United States for preventive services. Force (USPSTF).

"Whether the harms of risk assessment, counseling, testing and interventions outweigh the benefits depends on the individual's risk profile and family history of the woman," Dr. Douglas K. Owens, a member of the Task Force of

"Therefore, it is important for women who are concerned about their risk of having a BRCA mutation to discuss the benefits and harms with their physician. "

Owens and his colleagues at the government-backed USPSTF reviewed all available evidence before updating the recommendations of the Expert Panel on Risk Assessment, Genetic Consulting and Genetic Genetic Generation and Testing for BRCA-related Cancer. Documents appear in the Journal of the American Medical Association.

"Every step in the process can be complicated," Owen says.

As a first step, the USPSTF says women with a personal or family history of breast, ovarian, the fallopian tube or peritoneal (abdominal mucosa) and women whose ethnic origin is associated with an increased risk of BRCA mutations should be evaluated with one of several risk assessment tools, which accurately assess the likelihood of harmful mutations in the one of these genes.

If the risk assessment implies an increased likelihood of performing deleterious BRCA mutations, the woman should have genetic counseling, and possibly genetic testing.

"Sometimes it makes sense for a woman to get only an assessment and get counseling, but not a genetic test," Owen says. "It is also important to note that test results are complex and may not always conclusively tell a woman if there is a potentially harmful mutation that will lead to cancer."

The USPSTF recommends genetic testing if the woman's history suggests potential. for inherited cancer risk, but even then, only if the test results will help her decide on further evaluation and treatment.

Possible interventions may include more intensive screening for BRCA-related cancer, drugs that may reduce the risk of developing these cancers, and surgeries that further reduce the risk (by removing breasts, ovaries, and fallopian tubes) .

Dr. Susan Domcheck, of the BRCA Basser Center at the University of Pennsylvania in Philadelphia, who co-authored the editorial with the recommendation, said in an email to Reuters Health: "Many people at high risk of BRCA1 / 2 mutation have not been tested. Oncologists, primary care physicians, gynecologists, other healthcare providers and patients should be aware of the potential for genetic testing. At the same time, we must all strive to reduce barriers and ensure equal access to genetic research. "

Dr. Larissa A. Corde of the National Cancer Institute, Rockville, Maryland, who co-authored another affiliated editorial, told Reuters Health, also via email," I believe awareness of family cancer history is the key for both patients and doctors, "says Dr. Corde." Knowing which cancers are linked to the BRCA mutation, both in men and women, will lead to the successful identification of those who need to to 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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