BreastTrue® High Risk Panel

Genetic Testing for High Risk Incidences of Breast Cancer

What is BreastTrue® high risk panel?

BreastTrue® High Risk Panel is a next-generation sequencing test that detects mutations in eight high-risk breast cancer susceptibility genes, including BRCA1, BRCA2 and PALB2. In addition, the test includes deletion/duplication analysis of the BRCA1/2 genes by MLPA.

Recent studies of breast cancer survivors have shown that approximately 70 percent of the mutations identified were BRCA1/2 mutations. Approximately 4 percent had germline mutations in other cancer-susceptibility genes, including high-risk genes. These additional high-risk genes include CDH1, CHEK2, PALB2, PTEN, STK11, and TP53. Pathway Genomics’ BreastTrue® High Risk Panel analyzes all of these genes.

BreastTrue® High Risk Panel Resources

  1. Test Requisition Form
  2. Testing Summary
  3. Technical Bulletin
  4. White Paper

The Latest Research On PALB2

A new large study published in the New England Journal of Medicine shows that mutations in the PALB2 gene are important contributors to breast cancer risk. Read the abstract…

“Since the BRCA1 and BRCA2 mutations were discovered in the mid-90s, no other genes of similar importance have been found. PALB2 is a potential candidate to be BRCA3.”

Marc Tischkowitz, M.D., Ph.D.
Lead Study Author
Department of Medical Genetics
University of Cambridge

+ Testing Options

Below are the next-generation sequencing tests that Pathway Genomics offers for risk of hereditary breast cancer:

  1. BRCATrue®
  2. BreastTrue® High Risk Panel
  3. Single Site Testing

Reflex Options

  1. BRCATrue® with reflex to BreastTrue® High Risk Panel

+ High-Risk Hereditary Breast Cancers

Cancer Types Chart

+ Clinical Guidelines & Clinical Utility

High Risk Patient Criteria

The test is best suited for individuals with either a history of early onset breast or ovarian cancer or a strong family history of breast and/or ovarian cancer. Individuals with the following medical or family history factors should consider testing:

  • Early onset breast cancer (under 50 years of age)
  • Bilateral or multiple breast cancers
  • Diagnosed with both breast and ovarian cancer
  • Family history of breast and/or ovarian cancer
  • Male breast cancer within family
  • Ashkenazi Jewish ethnic background

Clinical Utility

  • Guide decisions on prevention strategies (e.g. chemoprevention, prophylactic surgery)
  • Increase surveillance for breast cancer
  • Inform treatment decisions
  • Identify family members at increased risk

+ References

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