The U.S. Preventive Services Task Force (USPSTF) updated its recommendations on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer, saying that women with either a personal or family history of breast or ovarian cancer, as well as women who are Ashkenazi Jewish (Eastern European), should have their risk assessed by their primary care doctor.
The USPSTF recommends a three-step process:
- risk assessment with a validated risk assessment tool by the primary care doctor
- genetic counseling if the risk assessment tool has positive results
- genetic testing, if indicated after genetic counseling
While the updated recommendations expand the number of women who will be referred for genetic counseling and testing, some experts are concerned that there are still unresolved issues, including Susan Domchek, M.D., executive director of the Basser Center for BRCA at Penn Medicine’s Abramson Cancer Center.
The updated recommendations were published in the Aug. 20, 2019, issue of JAMA. Read “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.”
The USPSTF is a group of experts that makes recommendations to the U.S. Department of Health and Human Services on policies to prevent diseases. The task force reviewed many studies on genetic testing and risk to develop its recommendation statement. This statement is an update of the last statement released in 2013.
Gene mutations linked to breast cancer
Two of the most well-known genes that can mutate and raise the risk of breast and/or ovarian cancer are BRCA1 and BRCA2. Women who inherit a mutation in either of these genes — from their mothers or their fathers — have a much higher-than-average risk of developing breast cancer and/or ovarian cancer.
Men with these mutations also have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer.
About 5% to 10% of breast cancers are thought to be hereditary, meaning the cancer is linked to mutations in genes passed from parent to child.
You are substantially more likely to have a genetic mutation linked to breast cancer if:
- You have blood relatives (grandmothers, mother, sisters, aunts) on either your mother's or father's side of the family who had breast cancer diagnosed before age 50.
- There is both breast and ovarian cancer on the same side of the family or in a single individual.
- You have a relative(s) with triple-negative breast cancer.
- There are other cancers in your family in addition to breast, such as prostate, melanoma, pancreatic, stomach, uterine, thyroid, colon, and/or sarcoma.
- Women in your family have had cancer in both breasts.
- You are of Ashkenazi Jewish (Eastern European) heritage.
- You are African American and have been diagnosed with breast cancer at age 35 or younger.
- A man in your family has had breast cancer.
- There is a known breast cancer gene mutation in your family.
What are risk assessment tools?
There are several breast cancer risk assessment tools that doctors use to calculate a woman’s risk of breast cancer. One of the most well-known is the Tyrer-Cuzick tool, which assesses breast cancer risk based on a woman’s answers to a series of questions, including age at first period, height, weight, childbearing history, family history of breast cancer, menopausal status, and any use of hormone replacement therapy. The result is an estimate of the likelihood a woman will develop invasive breast cancer specifically within 10 years of her current age, as well as over the course of her lifetime.
The updated recommendations
The updated recommendations apply to women who have no symptoms of BRCA-related cancer and do not know if they have a BRCA mutation. This includes women who have never been diagnosed with BRCA-related cancer, as well as women who have been previously diagnosed and treated for cancer that could be related to a BRCA mutation, such as breast or ovarian cancer, but have never had genetic testing.
The USPSTF pointed out that while the recommendations apply to women, the benefits are based on biological sex, not gender identification, so people should consider their sex at birth to figure out if the recommendations apply to them.
The recommendations say:
- For women who have family members diagnosed with breast, ovarian, fallopian tube, or peritoneal (tissue that lines the abdominal wall) cancer, primary care doctors can use risk assessment tools to figure out if the women need genetic counseling. Risk assessment tools mentioned in the recommendations include:
- Tyrer-Cuzick tool
- Ontario Family History Assessment Tool
- Manchester Scoring System
- Referral Screening Tool
- Pedigree Assessment Tool
The recommendations say that the Gail model, another well-known risk assessment tool, is not designed to specifically identify BRCA-related cancer risk and should not be used for this purpose.
- If the risk assessment tool shows that a woman has a high risk of BRCA-related cancer, the woman should be referred to a genetic counselor. A genetic counselor is a medical professional specially trained to understand and provide information about genetics and disease. The genetic counselor will work with you to build a family tree that shows all of the cases of breast, ovarian, and other types of cancer in your family, along with the ages at which they occurred.
During the genetic counseling process, you will also learn about the risks and benefits of genetic testing, how the results of the test are interpreted, and management options based on test results.
- If the genetic counseling session indicates that genetic testing is recommended, then testing for BRCA1 and BRCA2 mutations should be done. The USPSTF did not recommend multigene panel testing, which includes tests that look for mutations in genes linked to cancer beyond BRCA1 and BRCA2.
"The [recommendations] add those who have previously been diagnosed with breast or ovarian cancer, but are now cancer free, to the list of those who should undergo careful genetic risk-assessment, which is a positive addition as finding a BRCA1/2 mutation in these patients could directly impact their medical care and have implications for their relatives. It also more explicitly includes ancestry as a risk factor," Domchek said.
Experts’ concerns about the recommendations
Domchek and other experts agree the updated recommendations are helpful, but many feel that the updates don’t address ongoing issues around genetic testing.
"These recommendations may start a needed discussion, but we can do much better," said Dr. Len Lichtenfeld, interim chief medical officer of the American Cancer Society in an interview, calling the task force's approach "conservative." He also noted that the recommendations don’t address BRCA testing in men, who also can be diagnosed with breast and other BRCA-related cancers.
In an editorial in JAMA that accompanied the recommendations, Domchek and Mark Robson, M.D., of Memorial Sloan Kettering Cancer Center, pointed out that one in 40 people of Ashkenazi Jewish descent have one of three specific BRCA1 or BRCA2 founder mutations, compared with about one in 300 people in the general population.
"Although the USPSTF discusses ancestry as a potential risk factor, it does not specifically endorse testing unaffected Ashkenazi Jewish women with no family history. However, the statement may be interpreted as a step toward supporting unselected testing in this group," they wrote.
Domchek and Robson also noted that the new recommendations do not address the link between genetic testing and treatment plans. BRCA status can influence the type of surgery a woman diagnosed with early-stage breast cancer might have. For example, if a woman knows she has a BRCA mutation, she may opt to have a double mastectomy rather than a lumpectomy. Also, if a woman has been diagnosed with metastatic breast cancer and knows she has a BRCA mutation, she is eligible to be treated with a certain type of targeted therapy medicine called a PARP inhibitor.
In an editorial in JAMA Oncology, Rachel Yung, M.D., of the University of Washington, and Larissa Korde, M.D., of the National Cancer Institute, said it was a "missed opportunity" that the guidelines apply only to women.
"Metastatic prostate cancer is the most common BRCA-associated cancer in men," they wrote. "Notably, 6% of men with metastatic prostate cancer have a BRCA1 or BRCA2 mutation."
In comparison, 5% to 10% of breast cancer cases and about 15% of ovarian cancer cases are due to a BRCA mutation.
What this means for you
If you are of Ashkenazi Jewish descent or have a personal or family history of breast or ovarian cancer and have never had genetic testing, it makes sense to talk to your doctor about doing a BRCA-related cancer risk assessment.
"Even if you were diagnosed with breast or ovarian cancer 10 or 15 years ago, this still has implications for you, your health, and your family," Domchek said.
She recommends telling your doctor about:
- anyone in your family who has been diagnosed with cancer, no matter the type of cancer
- if you were diagnosed with breast cancer, no matter how long ago it was, make sure your doctor knows the characteristics of the cancer you were diagnosed with and your age at diagnosis
- your ethnicity, especially if you are Ashkenazi Jewish
If your assessment places you at high risk for a BRCA-related cancer, ask your doctor for a referral to a genetic counselor. Besides helping you build a family tree, the counselor also can help you weigh the risks and benefits of genetic testing and figure out if other people in your family should be tested.
If the counseling session indicates that genetic testing might be right for you, the counselor can help you figure out which genetic test is best for your unique situation. A counselor also may be able to help you navigate any insurance coverage issues. Once your have your test results, the genetic counselor can help you interpret the results and what they mean for your health and your family.
If you do have a mutation linked to breast cancer, there are lifestyle choices you can make to keep your risk as low as it can be, including:
- maintaining a healthy weight
- exercising regularly
- limiting alcohol
- never smoking
- eating a diet rich in unprocessed, nutrient-dense foods (foods that have the most vitamins, minerals, and healthy compounds)
There are also more aggressive steps you can take to reduce your risk of breast cancer, including:
- more frequent screening that starts at a younger age
- taking a medicine such as tamoxifen, Evista (chemical name: raloxifene), Aromasin (chemical name: exemestane), or Arimidex (chemical name: anastrozole)
- removing the healthy breasts and ovaries — called prophylactic or protective surgery — before cancer develops
For more information on genetic testing, including types of genetic tests and how results are reported, visit the Breastcancer.org Genetic Testing pages.
For more information on genes and genetic mutations linked to breast cancer, as well as all the risk-lowering steps you can take if you have a genetic mutation, visit the Breast Cancer Risk Factors: Genetics page in the Breastcancer.org Lower Your Risk section.
To discuss being at high risk for breast cancer with other people, join the Breastcancer.org Discussion Board forum High Risk for Breast Cancer. If you've tested positive for a mutation linked to breast cancer and would like to talk about this with others who have also tested positive, join the forum Positive Genetic Test Results.
Written by: Jamie DePolo, senior editor
Reviewed by: Brian Wojciechowski, M.D., medical adviser