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In families with HBOC syndrome, there is typically a pattern of early onset breast cancer (before the age of 50 or premenopausal).  Additionally, the family history may show more than one primary breast cancer in an individual, breast cancer in two or more generations, breast cancer in a male relative, and ovarian cancer, with or without a breast cancer diagnosis. Females with a BRCA1 mutation have a 50-85% risk of developing breast cancer and up to a 44% risk of developing ovarian cancer.  Females with a BRCA2 mutation have a 40-70% risk of developing breast cancer and up to a 27% risk of developing ovarian cancer.  Males with a BRCA1 or BRCA2 mutation can have up to a 5-10% lifetime risk for male breast cancer and an elevated risk of prostate cancer.  Additionally, both males and females with BRCA1 or BRCA2 mutations may be at elevated risks for other cancers.  Individuals with a mutation in the BRCA1 or BRCA2 gene have a 50% risk of passing on the mutation to their children.

Who Should Consider BRCA Screening?

According to the National Comprehensive Cancer Network (NCCN) recommendations, BRCA testing is suggested for individuals with a personal or family history of any of the following:

  • Early-onset breast cancer (<50 years of age), bilateral breast cancer or triple negative (PR/ER/HER2 negative) breast cancer (<60 years of age)
  • Two primary breast cancers or a diagnosis of both breast and ovarian cancer in one individual
  • Personal or family history of male breast cancer
  • Ovarian cancer at any age
  • Ethnicity with a higher mutation frequency (eg. Ashkenazi Jewish)

Test Details

This BRCA1/2 screening option will detect 80% of the known pathogenic variants related to Hereditary Breast and Ovarian Cancer syndrome.

Detection:

Analytical Sensitivity: ~99%. Clinical Sensitivity: Unknown

Direct sequencing of the captured regions is performed using next-generation sequencing. This method detects 80% of known pathogenic variants related to Hereditary Breast and Ovarian Cancer syndrome. Findings are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

Test Results

Turn around time: Results can be expected 3 weeks from the time the sample is received at the laboratory.

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BRCA screening is performed through our sister laboratory, EGL Genetics Eurofins.
EGL Genetics has been providing superior, cutting-edge service for more than 47 years. Their expertise spans common and rare genetic disease testing, genomic variant interpretation, test development, and research. EGL Genetics is a CLIA-certified and CAP-accredited laboratory. They work with clients across the United States and from more than 45 countries to help improve patient diagnosis.

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