Breast Surgeons Seek Genetic Testing for All Patients With Breast Cancer

The update follows a study published in November that found almost no difference in the frequency of mutations between patients with breast cancer who met National Comprehensive Cancer Network guidelines and those who didn't.

New guidelines issued Friday from the American Society of Breast Surgeons (ASBrS) call for giving every person diagnosed with breast cancer a genetic test with a multigene panel. The consensus statement was approved by the society’s board of directors and has 5 elements:

  • Breast surgeons, genetic counselors, and other knowledgeable professionals can provide education and counseling and make recommendations and arrange testing.
  • Genetic testing should be available to all patients with a personal history of breast cancer. Testing should include BRCA1/2, PALB2, and other genes appropriate with family history.
  • Patients who had genetic testing may benefit from updated testing. The guidelines update scenarios for patients to have updated testing if initial testing was done prior to 2014.
  • Genetic testing should be made available to those without a history of breast cancer who meet guidelines of the National Comprehensive Cancer Network (NCCN). Sometimes this occurs if an affected relative cannot be tested.
  • Variants of uncertain significance are DNA sequences that are not clinically actionable. This type of result must be considered inconclusive.

The update follows a study published in 2018 in the Journal of Clinical Investigation, the official publication of the American Society of Clinical Oncology, which called for all patients with a breast cancer diagnosis to undergo expanded panel testing. Researchers reviewing registry from 959 patients found that patients with breast cancer who met NCCN testing criteria had similar rates of pathogenic or likely pathogenic hereditary mutations (9%) as those who did not meet the NCCN criteria (8%).1

“I am excited by our new guidelines and look forward to the day NCCN updates its guidelines, also. The exciting new data demonstrated that about half of patients with breast cancer have clinically actionable mutations that are being missed when genetic testing is restricted to patients meeting current NCCN guidelines,” Walton Taylor, MD, president of American Society of Breast Surgeons, said in a statement to the society membership. “As genetic testing expands, it is important to choose the lab carefully, making sure they provide quality testing with accurate results and appropriate follow-up.”

In their consensus statement, panel members stated that about 10% of the 266,000 new cases of invasive breast cancer in the United States each year would be linked to a pathogenic germline variant of one of several genes; more than 50% of these are mutations of BRCA1/2. While testing costs less than it once did and fewer barriers exist, some remain—among them, the limited number of genetic counselors who can meet with patients and family members.

Genetic counselors play a critical role, because they are needed to help patients and family members interpret results. Some health insurers, including Cigna, require their assistance to accompany testing. Awareness about BRCA1/2 mutations soared in 2013 after actress Angelina Jolie disclosed her decision to have a double mastectomy due to her own family history. As a result, many payers took a cautious view, wary that the fear of breast cancer would cause some women to have surgery they did not need.

In their consensus statement, the ASBrS said that surgeons can inform patients of the risks and benefits of testing and discuss risk management strategies for patients who test positive.

At least one genetic provider praised the new guidelines. “We applaud the ASBrS for recognizing the important advances in scientific knowledge, and for recommending genetic testing for all people with breast cancer,” said Johnathan Lancaster, MD, PhD, chief medical officer for Myriad Genetics. “The valuable information provided by genetic testing enhances physicians’ ability to select appropriate precision treatments, personalize care for patients and their families and improve health outcomes.”


1. Beitsch PD, Whitworth PW, Hughes K, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol 2018;37:453-460. doi: 10.1200/JCO.18.01631.