Hereditary Breast Cancer

Approximately seven percent of breast cancer cases are caused by mutations in the BRCA1 or BRCA2 genes.1  Individuals who carry a mutation in either the BRCA1 or BRCA2 gene have a condition called Hereditary Breast and Ovarian Cancer (HBOC) syndrome, which is associated with an 87 percent risk of developing breast cancer by age 70.2-4 Mutation carriers who have already been diagnosed with cancer also have a significantly increased risk of developing a second cancer. Myriad offers genetic testing that can be used to identify patients who are carriers of a BRCA1, BRCA2 or other gene mutation.

Who Should Be Tested for a BRCA1 or BRCA2 Gene Mutation with Myriad MyRisk

If a patient’s personal or family history indicates that he/she may be at increased risk of HBOC and other syndromes, genetic testing provides the most accurate means of assessing cancer risk. Knowing the potential risk can help you make better, more informed decisions about your patient’s health, before the onset of cancer or before a second cancer has developed.

Genetic testing for hereditary breast and ovarian cancer with the Myriad MyRisk Hereditary Cancer panel should be considered if:*

The Patient:

  • Has had breast cancer at age 50 or younger
  • Has had ovarian cancer at any age
  • Has had triple negative breast cancer at any age
  • Is male and has had breast cancer at any age
  • Is of Ashkenazi Jewish descent and has a personal or family history of breast, ovarian, prostate or pancreatic cancer

The Patient’s Family:

  • Has had two breast cancers in the same person or on the same side of the family
  • Has had someone diagnosed with triple negative breast cancer at any age
  • Has had pancreatic cancer and an HBOC-associated** cancer in the same person or on the same side of the family
  • Has three or more family members with breast cancer on the same side of the family
  • Has had a previously identified BRCA1, BRCA2 or other gene mutation in the family

You can use the Myriad Hereditary Cancer Quiz as a tool to help you identify patients who may benefit from hereditary cancer testing.

Using the Results of Hereditary Cancer Testing to Reduce Breast Cancer Risk

If hereditary cancer genetic testing confirms the presence of a BRCA1 or or BRCA2 mutation or another gene associated with breast cancer risk, the following medical management options may help to reduce your patient’s breast cancer risk and may either prevent or delay the onset of cancer or detect cancer at an earlier, more treatable stage, when outcomes are better:†

  • Increased surveillance for breast cancer
  • Increased surveillance for ovarian cancer
  • Increased surveillance for other cancers
  • Risk-reducing medications
  • Prophylactic surgery, such as mastectomy or oophorectomy

Using Hereditary Cancer Testing Results to Improve Patient Care

Hereditary cancer gene panel testing results can assist you in developing personalized medical management plans that can help you:

  • Maximize patient care and increase clinical efficiency by providing increased surveillance and other interventions for patients with a BRCA1, BRCA2 or other gene mutation.
  • Improve outcomes and reduce medical costs through earlier diagnosis and treatment of cancer if it develops.
  • Counsel patients and their families on the underlying causes of the pattern of breast, ovarian and/or other cancer in their family and how this might affect their cancer risk.
  • Avoid unnecessary interventions for family members who do not test positive for the mutation.


  1. Claus EB, et al. The genetic attributable risk of breast and ovarian cancer. Cancer 1996;77:2318-2324.
  2. Pal T, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005;104(12):2807-2816.
  3. Risch H, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001: 68:700-710.
  4. Easton DF, et al. Breast and ovarian cancer incidence in BRCA1- mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 56:265-71. PMID: 7825587.

Paul Diaz at the 40th Annual J.P. Morgan Health Care Conference