BRCATrue - Pathway Genomics
Pathway Genomics is proud to celebrate 10 successful years as a CLIA and CAP accredited clinical laboratory!


Genetic Testing for Breast Cancer

What is BRCATrue®?

Pathway Genomics’ BRCATrue® is a next-generation sequencing test that searches for mutations in BRCA1 and BRCA2 genes. Having mutations in either the BRCA1 or the BRCA2 gene significantly increases a patient’s risk for breast, ovarian and other types of cancer2.

1 in 8 Infographic

1 in 8 women are affected by breast cancer in their lifetime

1 in 71 Infographic

1 in 71 women are affected by ovarian cancer in their lifetime

80% of families chart

80% of families with a pattern of breast and ovarian cancer have been attributed to BRCA1/2 mutations

BRCATrue® Advantage

  • Easy to interpret and clinically actionable results
  • Rapid 2-week turnaround time
  • Variant classification

BRCATrue® Resources

  1. Test Requisition Form (TRF)
  2. White Paper
  3. One Pager
  4. Technical Bulletin
  5. Brochure
  6. Sample Report

Learn More About BRCATrue®

BRCA1 Description

Pathogenic variants in the BRCA1 gene are associated with hereditary breast and ovarian cancer (HBOC) syndrome, and convey a significantly increased risk of both breast and ovarian cancer. Studies have demonstrated that BRCA1 gene pathogenic variants can be associated with up to a 85% breast cancer risks and up to a 63% ovarian cancer risk in high-risk Furthermore, women with a BRCA1 pathogenic variant have an increased risk of a second breast cancer diagnosis (contralateral or ipsilateral). This risk has estimated to be up to 27% within the first 5 years of diagnosis and up to 40-50% within 20 years of initial diagnosis. Pathogenic variants in BRCA1 may also be associated with an increased risk of other types of cancer, including peritoneal, pancreatic, prostate, and male breast cancer. However, the exact level of risk is not yet known. 5-12

BRCA2 Description

Pathogenic variants in the BRCA2 gene are associated with Hereditary Breast and Ovarian Cancer (HBOC) syndrome, and convey a significantly increased risk of several cancers, including breast, ovarian, pancreatic, melanoma, and prostate cancer. Studies have demonstrated that BRCA2 gene pathogenic variants can be associated with up to an 84% breast cancer risk and up to a 27% ovarian cancer risk in high-risk Furthermore, in women who have had breast cancer, having a BRCA2 pathogenic variant increases risk of a second breast cancer diagnosis (contralateral or ipsilateral). This risk has estimated to be up to 12% within the first 5 years of diagnosis and up to 40–50% within 20 years of initial diagnosis. BRCA2 pathogenic variants may also be associated with small increased risks of developing primary peritoneal, gallbladder, bile duct, and stomach cancer. However, these risks are not yet clearly defined. 5-14

Cancer Risk Chart

Inheritance and Familial Implications

BRCA1 and BRCA2 pathogenic variants are inherited in a dominant pattern, meaning that anyone with a pathogenic variant has a 50% chance of passing it on to each of his or her children. Conversely, this also means that they have a 50% chance of not passing on the pathogenic variant to each child. Individuals who carry a BRCA1 or BRCA2 pathogenic variant do not have any control over whether or not a variant is passed on to their children. Both men and women can have pathogenic variants in BRCA1 or BRCA2 and can pass them down to their children, even though the cancer risks may be different for males and females. In addition to children, each first-degree relative (parents and full siblings) of someone with a BRCA1 or BRCA2 pathogenic variant has a 50% chance to have the same pathogenic variant.

Genetic testing is available to at-risk family members to determine if they also carry the identified BRCA1 or BRCA2 pathogenic variant. Because of the increased risks for certain cancers, identified carriers of the BRCA1 or BRCA2 should seek recommendations from their provider regarding future medical management. Those individuals found not to carry the familial BRCA1 or BRCA2 gene pathogenic variant will have risks similar to the general population.

BRCATrue® 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 for mutations in BRCA1/2:

  • 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
  • Two or more BRCA1 or BRCA2-related cancers in a single family member
  • Male breast cancer within family
  • Ashkenazi Jewish ethnic background

Clinical Utility of BRCA Testing

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

Familial Studies Program

In the process of sequencing the patient’s DNA, we may identify a likely pathogenic genetic variant, or a genetic variant with uncertain pathogenicity (VUS). To help understand the significance of these types of variants, and how the patient and family members may be affected, Pathway Genomics offers a Familial Studies Program. Testing additional family members for the same variant observed in your patient, and determining the correlation between cancer history and occurrence of the variant, may provide further insight into the clinical relevance of the variant.

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

Classification System

Pathway Genomics classifies variants using a 5-tier system based on the American College of Medical Genetics (ACMG) guidelines. Likely Benign and Benign variants are not reported.

Mutations with known clinical significance and demonstrated to increase the risk of cancer

Likely Pathogenic
Genetic changes that have some preliminary clinical data suggesting an association with cancer but not sufficient to make a definitive determination of pathogenicity and associated cancer risk

Uncertain Pathogenicity (VUS) | Genetic changes with either conflicting data or no supporting data, thus a determination of pathogenicity cannot be made

Likely Benign
Genetic changes with strong but limited evidence to be classified as benign and are not likely to increase the risk for cancer

Genetic changes that are previously reported and have sufficient evidence to be classified as benign with no clinical relevance

Step 1:

BRCATrue® must be ordered by a physician, and patients are required to fill out a clinical history questionnaire to determine eligibility.

Step 2:

Patient’s blood sample is collected in the BRCATrue® test kit and sent back to Pathway Genomics, along with the required paperwork.

Step 3:

Pathway Genomics processes and analyzes the submitted sample in its CLIA certified and CAP accredited laboratory. Typically within two to three weeks, the patient’s personalized results will be available to the ordering physician. The results will then be released to the patient. Pathway Genomics has a team of genetic counselors available to ensure that both the patient and the physician understand the information in the report, and to answer additional questions. To contact a Pathway Genomics genetic counselor, please call client services department at 877-505-7374 or email

+ References

  1. Siegel R, Ma J, Zou Z, Jemal A. Cancer statistics, 2014. CA: a cancer journal for clinicians. Jan-Feb 2014;64(1):9-29.
  2. National Cancer Institute (NCI). Genetics of Breast and Ovarian Cancer (PDQ®). 2014; Accessed April 29, 2014.
  3. Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection Nature reviews. Cancer. Jan 2012;12(1):68-78.
  4. Liu G, Yang D, Sun Y, et al. Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer. Pharmacogenomics. Oct 2012;13(13):1523-1535.
  5. Easton DF, Bishop DT, Ford D, Crockford GP. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. American journal of human genetics. Apr 1993;52(4):678-701.
  6. Smith EC. An overview of hereditary breast and ovarian cancer syndrome. Journal of midwifery & women’s health. Nov-Dec 2012;57(6):577-584.
  7. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. American journal of human genetics. Mar 1998;62(3):676-689.
  8. Malone KE, Daling JR, Doody DR, et al. Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer research. Aug 15 2006;66(16):8297-8308.
  9. John EM, Miron A, Gong G, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA : the journal of the American Medical Association. Dec 26 2007;298(24):2869-2876.
  10. Deng CX, Brodie SG. Roles of BRCA1 and its interacting proteins. BioEssays : news and reviews in molecular, cellular and developmental biology. Aug 2000;22(8):728-737.
  11. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nature reviews. Cancer. Sep 2004;4(9):665-676.
  12. Dapic V, Monteiro AN. Functional implications of BRCA1 for early detection, prevention, and treatment of breast cancer. Critical reviews in eukaryotic gene expression. 2006;16(3):233-252.
  13. Yun MH, Hiom K. Understanding the functions of BRCA1 in the DNA-damage response. Biochemical Society transactions. Jun 2009;37(Pt 3):597-604.
  14. Huen MS, Sy SM, Chen J. BRCA1 and its toolbox for the maintenance of genome integrity. Nature reviews. Molecular cell biology. Feb 2010;11(2):138-148.
  15. Millot GA, Carvalho MA, Caputo SM, et al. A guide for functional analysis of BRCA1 variants of uncertain significance. Human mutation. Nov 2012;33(11):1526-1537.
  16. Petrucelli N, Daly MB, Feldman GL. BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle (WA)1993.