The American Society of Breast Surgeons has issued updated guidelines saying genetic testing should be made available to everyone who has been diagnosed with breast cancer.
The guidelines were published online on Feb. 10, 2019. Read “Consensus Guideline on Genetic Testing for Hereditary Breast Cancer.”(PDF)
The update to the guidelines comes on the heels of research published in December 2018 showing that current National Comprehensive Cancer Network (NCCN) breast cancer genetic testing guidelines miss about half of people with a genetic mutation linked to breast cancer.
What is hereditary breast cancer?
About 5% to 10% of breast cancers are thought to be hereditary, caused by genetic mutations passed from parent to child. Three of the most well-known genes that can mutate and raise the risk of breast and/or ovarian cancer are BRCA1, BRCA2, and PALB2. Women who inherit a mutation, or abnormal change, in any 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 have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer. Many inherited cases of breast cancer have been associated with mutations in these three genes.
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 genetic mutation linked to breast cancer in your family
Current genetic testing guidelines
Current NCCN guidelines recommend genetic testing for someone diagnosed with breast cancer if:
- there is a known mutation in the family
- the person was diagnosed at age 50 or younger
- the person has been diagnosed with two primary breast cancers
- a first-degree female relative (mother, sister) was diagnosed with breast cancer at age 50 or younger or was diagnosed with ovarian cancer
- two or more first-degree relatives were diagnosed with breast, prostate, and/or pancreatic cancer
- a man in your family has been diagnosed with breast cancer
The NCCN is an alliance of a group of the world's leading cancer centers. These NCCN centers collaborate on research, guidelines, and education to improve the care of people diagnosed with cancer.
American Society of Breast Surgeons guidelines
While the NCCN genetic testing guidelines for people diagnosed with breast cancer were updated in January 2019, the American Society of Breast Surgeons feels these changes have not kept pace with research.
“We’ve been struggling with the guidelines for a while,” said Walton Taylor, M.D., president of the American Society of Breast Surgeons, in an online interview. “The guidelines are still lagging because we miss people [who should be offered testing].”
Taylor explained that researchers continue to identify new genetic mutations that may contribute to the development of breast cancer, making it likely that more people could benefit from testing. He also said that the age cut-offs in the current NCCN guidelines seem arbitrary.
“For example, a patient with triple-negative breast cancer who is younger than 60 years currently qualifies for testing,” Taylor said. “But the moment she turns 60, she does not. Yet it is hard to say a woman who is diagnosed at 61 did not have that tumor before she was 60.”
The updated American Society of Breast Surgeons guidelines on genetic testing for breast cancer recommend:
- Breast surgeons, genetic counselors, and other medical professionals knowledgeable in genetic testing can provide patient education and counseling and make recommendations to their patients regarding genetic testing and arrange testing. When the patient’s history and/or test results are complex, referral to a certified genetic counselor or genetics professional may be useful.
- Genetic testing should be made available to all patients with a personal history of breast cancer.
- Patients who had genetic testing previously may benefit from updated testing. Every patient being seen by a breast surgeon who had genetic testing in the past and had no mutation linked to breast cancer identified should be re-evaluated and updated testing should be considered. In particular, a patient who had negative BRCA1 and BRCA2 testing and is from a family that has had no mutations detected should be considered for additional testing.
- Genetic testing should be made available to patients without a history of breast cancer who meet NCCN guidelines.
The American Society of Breast Surgeons is the first group to call for broad genetic testing, but Taylor said he doubts it will be the last. “We did not decide to make this position change quickly, and I imagine others will take time, but I do think you will see others joining this idea,” he said.
What this means for you
Research suggests that many people with mutations linked to breast cancer are not having genetic testing because they don’t meet NCCN testing guidelines. This means that people who don’t know they have a genetic mutation may not be told about all their options for reducing their risk of recurrence (the cancer coming back) or a new cancer.
NCCN genetic testing guidelines for people diagnosed with breast cancer were first developed about 20 years ago when testing was limited to two genes: BRCA1 and BRCA2. Genetic testing at that time also was very expensive, costing approximately $5,000 per test.
Since that time, genetic testing technology advanced rapidly, allowing multiple genes to be tested at the same time. The cost of genetic testing also dropped dramatically; today, some genetic testing can be done for as little as $250.
If you’ve been diagnosed with breast cancer, you may want to talk to your doctor or a licensed certified genetic counselor about your diagnosis and your family history and ask if having a multigene panel test makes sense for you. A licensed certified genetic counselor or your doctor can help you understand the test and accurately interpret the results.
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