New BRCA recommendations dramatically expand the number of testable patients for whom primary care physicians should conduct a risk assessment and potentially refer to genetic counseling and testing for BRCA-related cancer. The U.S. Preventive Services Task Force (USPSTF) recently updated its recommendations on screening for the potentially harmful genetic mutations of breast cancer susceptibility 1 and 2 genes (BRCA1/2) that account for between 5 and 10 percent of breast cancer cases and 15 percent of ovarian cancer cases. Help save lives by spreading awareness about the new cancer screening recommendations.
BRCA Recommendations Change
This update represents significant changes to USPSTF’s 2013 recommendations for risk assessment and testing for cancer-related to the breast and ovarian cancer susceptibility gene BRCA. In their recommendation statement, the USPSTF explains that “since 2013, the validity of genetic testing for BRCA1/2 mutations has been established and the potential benefits and harms of previously reviewed interventions, such as risk-reducing medications and surgery, have been studied for longer follow-up periods.”
The USPSTF continues to recommend risk assessment, genetic counseling, and genetic testing for BRCA1/2-related cancer in women with clinically relevant family cancer histories (B recommendation) but not for women without family histories associated with an increased risk for potentially harmful mutations in the BRCA1/2 genes (D recommendation). The recommendation statement goes on to explain that “the updated recommendation expands the population eligible for screening to include women with a previous breast, ovarian, tubal, or peritoneal cancer diagnosis who have completed treatment and are considered cancer-free and more explicitly includes ancestry associated with BRCA1/2 mutations (ie, founder mutations) as a risk factor.”
Importance of New BRCA Recommendations
Breast cancer is the most common cancer in American women after nonmelanoma skin cancer and the second leading cause of cancer death. Ovarian cancer ranks fifth in cancer deaths among women in the United States. In fact, about one in eight U.S. women (12 percent) will develop invasive breast cancer over the course of her lifetime, with an estimated 332,000 new case diagnoses (invasive and noninvasive) expected in 2019. While breast cancer is more common in women, men are also at risk with a one-in-883 lifetime risk of breast cancer.
BRCA Screening Can Save Lives
The BRCA1 and BRCA2 genes are tumor suppressor genes. Pathogenic mutations of the BRCA1/2 genes are associated with a high risk of breast, ovarian, fallopian tube, and peritoneal cancer in women, male breast cancer, and, to a lesser degree, pancreatic and aggressive, early-onset prostate cancer. In recent years the breadth of knowledge regarding hereditary cancer syndromes has undergone rapid evolution.
BRCA1/2 gene mutations occur in about one in 300 people in the general population. The USPSTF’s evidence report states that mutations in the BRCA1/2 genes increase breast cancer risk by 45 to 65 percent; whereas “the risk of ovarian, fallopian tube or peritoneal cancer increases to 39% for BRCA1 mutations and 10% to 17% for BRCA2 mutations.” Genetic testing may identify these mutations and provide guidance regarding management and treatment decisions, in turn, improving outcomes.
Who is the USPSTF?
The USPSTF provides provide a vital service by generating evidence-based recommendations about various preventive care strategies. This team of healthcare experts analyzes available data related to a spectrum of clinical prevention services and then provides objective recommendations for screening, counseling, or risk-reducing medications. To update its 2013 recommendation, the USPSTF commissioned a systematic review on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutations in asymptomatic women with no prior diagnosis of BRCA-related cancer, as well as those with a previous breast, ovarian, tubal, or peritoneal cancer diagnosis who have completed treatment and are considered cancer-free. They found adequate evidence of a moderate benefit to these interventions with little harm incurred by the patients.