What are BRCA mutations?
BRCA1, located on chromosome 17q21, and BRCA2, located on chromosome 13q12, are tumor suppressor genes that help prevent cells from growing and dividing too rapidly or uncontrolled.
They are also involved in repairing damaged DNA. A pathogenic variant, or disease causing mutation, in either of the BRCA genes can cause hereditary breast and ovarian cancer syndrome (HBOC), an autosomal dominant cancer predisposition syndrome. Although BRCA mutations are generally rare, if a patient is found to carry a disease-causing mutation, they are at a significantly increased risk of developing breast, ovarian, and other cancers.
Other Associated Cancers:
- Prostate cancer
- Male breast cancer
- Pancreatic cancer
Why is it important to screen for BRCA mutations?
Since mutations in BRCA1/2 mutations are associated with different types of cancer, screening using family history alone can often be deceiving. For the same reason, if a patient screens positive for a BRCA mutation both they and their family members would be at greater risk for developing all related cancers. It is important to know if a patient carriers one of the harmful BRCA mutations in order to develop the best monitoring and treatment plan.
Improved cancer risk management includes:
- Increased surveillance for ovarian, breast and related cancers
- Using breast MRI in addition to mammography
- Risk-reducing medications
- Preventive surgery
- Lifestyle Modifications
- Education and risk assessment for family members
Who should be offered 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)
Which Hereditary Cancer Screening Options Does NTD Offer?
NTD has partnered with GeneMatters to provide your patients with genetic counseling services if they receive a positive genetic test. GeneMatters offers telehealth services to provide deep medical expertise for personalized genetic counseling sessions.
Learn more about why NTD Eurofins has been the laboratory to trust for over 30 years.Learn More
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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