Genetic Testing & High-Risk Screening

Breast cancer is known to have a genetic component. Emerson provides genetic screening and counseling for patients who want to know their cancer risks.

Patients at a genetic risk for breast cancer can take steps to prevent breast cancer from occurring, or increase screenings to make sure it is found at the earliest, most treatable stages. Understanding the genetic causes of breast cancer is also leading to the development of customized, targeted cancer therapies. Genetic testing makes it possible to analyze a tumor’s DNA in order to determine whether or not a patient is at high or low risk for recurrence. Patients at low risk for recurrence may not require chemotherapy.

Generally, women who are diagnosed with breast cancer are offered genetic testing if they are younger than 50 when diagnosed or have a family history that suggests they could be positive for a mutation in either the BRCA1 or BRCA2 gene. The genes are associated with lifetime risks of 56–87 percent for developing breast cancer, 27–44 percent for developing ovarian cancer and 2–4 percent for developing pancreatic cancer. Men with these mutations have an increased risk of breast, pancreatic and prostate cancer.

An Emerson medical oncologist oversees the genetic testing service and works with patients to address the issues that testing can present. Those who are found to be positive for the BRCA1 or BRCA2 gene need to consider how to best prevent a future cancer diagnosis given their increased risk, and they must decide whether to tell family members about the gene mutation so that they can decide whether or not to be tested.

Preventive treatment options for those with one of the genes include surgical removal of both breasts (prophylactic mastectomy) and both ovaries, or intensive surveillance — multiple screenings for breast cancer and ovarian cancer throughout the year.

High-Risk Screening

If you are at a higher than average risk for breast cancer, specialists at Emerson Hospital and the Mass General Cancer Center at Emerson – Bethke can help you determine your options and develop an individualized risk-management plan. Plans might include additional screening, breast cancer chemoprevention, and preventative surgeries such as prophylactic mastectomy or prophylactic oophorectomy.

Our multidisciplinary team of experts includes specialists in breast imaging, surgery, oncology, and genetics who will help determine the best course of action for your individual circumstances. You and your physician can use results from a breast cancer risk assessment to determine if you have an increased risk of breast cancer.

Familial and Genetic Factors

A familial history of breast or ovarian cancer can increase one’s risk of breast cancer. Genetic factors include:

  • Gene mutation in yourself or family member, including BRCA1, BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53, and XRCC2
  • Other hereditary syndromes with potential breast cancer risk
  • Neurofibromatosis

Tissue-based (Breast Biopsy) Findings

Breast biopsies can reveal several markers that may indicate a high risk of breast cancer. These include:

  • Atypical ductal hyperplasia, atypical lobular hyperplasia, and lobular carcinoma in situ (LCIS)
  • Flat epithelial atypia
  • Cytologic atypia
  • Papilloma
  • Sclerosing adenosis
  • Radial scar


Another risk factor is history of radiation therapy to the chest.