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New recommendations suggest that more women should be screened for BRCA mutations



ATLANTA (CNN) – Following new recommendations, more women should be screened for harmful mutations in the BRCA1 and BRCA2 genes that may increase the risk of certain cancers.

Previously, this was recommended to women with a family history of breast, ovarian, tubal, or peritoneal cancer for harmful BRCA1 or BRCA2 mutations. This recommendation was last issued in 2013 by the US Preventive Services Task Force of Voluntary Expert Groups that provide evidence-based recommendations for primary care.

The USPSTF is now updating its recommendation for this risk assessment to include women who have been diagnosed with breast, ovarian, or ovarian cancer in the past, but who have completed the treatment and who are considered "cancer free," as well as those with certain conditions Ancestors associated with BRCA1

or BRCA2 mutations, e.g. B. Ashkenazi Jewish descent.

Women with positive results in risk assessment of primary care are then advised to undergo genetic counseling and possibly a genetic study of the mutations.

A draft of the updated recommendation was published in February. The latest updated recommendation published on Tuesday in the medical journals JAMA.

Routine risk assessment is not recommended for women whose personal history, family history or ancestry does not indicate the presence of harmful BRCA1 or BRCA2 mutations.

Women need to be aware that, even though breast cancer is the second most common cancer in women, these mutations are actually quite rare, "said Dr. Carol Mangione, a primary care physician and professor of medicine and public health at the university from California, Los Angeles, member of the US Preventive Services Task Force.

In the general population, BRCA1 and BRCA2 mutations are estimated to affect between 300 and 500 women, accounting for between 5% and 10% of cases of breast cancer and breast cancer 15% of Ovarian Cancer Cases According to USPSTF.

"That's why the second part of the recommendation we recommend against routine risk assessment is important. The USPSTF reviewed an evidence report that included 103 previously published studies to update its recommendation

The updated recommendation notes that for women who are eligible for the Sc reconsideration on BRCA1 or BRCA2 mutations are recommended, these genetic criteria apply to risk assessment and BRCA mutation test is a multi-step process that usually begins with the risk assessment when visiting a family doctor.

The risk assessment tool helps patients with a family or personal history of breast, ovarian, tubal or peritoneal cancer or ancestors associated with harmful BRCA1 or BRCA2 mutations. This assessment helps determine whether the patient should subsequently undergo genetic counseling that can further assess the risk, followed by genetic testing.

Some women who have been diagnosed with harmful BRCA1 or BRCA2 mutations may wish to take extra measures to reduce their risk of cancer

The updated USPSTF Recommendation clarifies that primary care physicians should treat women with a history of cancer to assess acute risk when undergoing intensive screening, taking risk-mitigating drugs, or undertaking a risk-mitigating surgical procedure. Personal or family history of breast, ovarian, tubal or peritoneal cancer due to potential BRCA1 or BRCA2 mutations Banu Arun, a professor of breast cancer oncology and co-medical director of the Clinical Cancer Genetics Program at the MD Anderson Cancer Center in Houston, was not involved in the new recommendations.

"When patients meet the initial screening criteria and referral is required Genetic counseling and testing are indicated, and the insurance should cover genetic testing," Arun said.

"These recommendations also confirm that the use of validated risk screening tools is suitable for use in primary care."

The updated USPSTF recommendations on BRCA genetic testing and mammography screening "are susceptible to criticism that the differences in breast cancer are not sufficiently taken into account, "said an editorial published on Tuesday in the journal JAMA Surgery.

"Disproportionately high rates of breast cancer mortality In non-Hispanic countries, black women pose a major public health problem. Addressing this inequity in the context of evidence-based guidelines is inevitably difficult, as evidence at the highest level is often insufficient to address the consequences of Explaining breast cancer that is specific to "racial or ethnic minority" wrote the editor of the editorial, Dr. Lisa Newman of New York Presbyterian / Weill Cornell Medical Center.

The updated recommendation "provides an important recommendation service "Primary physicians proactively assess the risk of breast and ovarian cancer by documenting the personal and family history of cancers and gathering information on Jewish Ashkenazi descent," Newman wrote.

"As with any other guideline, it remains essential for clinicians . to exercise clinical judgment and to pay attention to subsets of patients that do not necessarily fit into recommendations for the majority or general population.

Dr Rachel Yung of the University of Washington at Seattle and Dr. Larissa Korde,

The editorial pointed out that clinicians are seeing the proliferation of genetic test products delivered directly to the consumer, and theirs Consider Complexity

For example, last year, the United States Food and Drug Administration granted 23andMe the right to place direct consumer testing for three specific mutations in BRCA1 and BRCA2 genes most commonly found in people of Ashkenazi Jewish descent. [19659002] The prevalence of such a mutation "is estimated at about 2% for women of Ashkenazi Jewish heritage, but only 0.1% for women from other populations. This increases the possibility that a patient for whom comprehensive testing is justified will be falsely insured by a negative test result and will not seek further evaluation, or that a clinician may erroneously assume that the patient does not require referral, "wrote Yung and Korde's editorial

They called for additional BRCA-related cancers to be considered when assessing a person's family history and improving access to genetic evaluation in the future.

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