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BRCANOW® - BRCA Gene Mutation Testing for Breast Cancer

BRCANOW® is a Next-Gen Sequencing (NGS)-based assay using a state-of-the-art platform to detect whether or not a mutation is present.

What Are BRCA Genes?

The breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes are most commonly associated with hereditary breast cancer and ovarian cancer.

Everyone has BRCA1 and BRCA2 genes present in every cell of their body. Normal BRCA genes function as tumor suppressor genes that prevent the growth of cancer, especially breast cancer and ovarian cancer.

Each person has two copies of each BRCA gene, one from their mother and one from their father.

BRCA Gene Mutations
An error in a gene results in a gene mutation. BRCA gene mutations are autosomal dominant mutations. This means that one copy of an abnormal BRCA gene will prevent the genes that should be preventing cancer from working properly, leading to an increased risk of developing cancer.

It is more common to have only one mutated BRCA gene instead of both copies. This is written as BRCA1/2. If your mother or father has a BRCA1/2 mutation, you have a 50% chance of also having the mutation.

How Do BRCA Gene Mutations Affect Cancer Risk?

About 3% of all breast cancers and 10% of ovarian cancers result from an inherited BRCA1 or BRCA2 gene mutation.

A person with a BRCA1/2 mutation still has one normal copy. Cancer occurs when both copies of the BRCA gene have a mutation that prevents it from functioning correctly. In a person with a BRCA1/2 mutation, there is only one gene instead of two that must be mutated.

Breast Cancer
In the general population, 13% of women will develop breast cancer during their lifetime. In contrast, about 70% of women with a BRCA1 or BRCA 2 gene mutation will develop breast cancer in their lifetime.

Ovarian Cancer
In the general population, 1.2% of women develop ovarian cancer in their lifetime. In contrast, about 44% of women with a BRCA1 mutation and about 17% of women with a BRCA2 mutation will develop ovarian cancer.

Who Is at Risk of a BRCA Mutation?
About 1 in 500 women in the United States have a mutation in the BRCA gene. BRCA mutations happen in both men and women and all ethnic groups, but some groups may be more at risk than others.

People with a family history that includes any of the following may be at a higher risk of carrying a BRCA mutation.
  • Multiple relatives with breast cancer
  • Any relative with ovarian cancer
  • A relative who developed breast cancer before age 50
  • A relative with cancer in both breasts
  • A relative who developed both breast and ovarian cancer
  • A male relative with breast cancer
  • Ashkenazi Jewish ancestry
  • A relative with a known mutation in BRCA1 or BRCA2

People already diagnosed with cancer have a higher risk of having a BRCA mutation if cancer presents in a specific way, such as:
  • Breast cancer before age 50
  • Tripple-negative breast cancer
  • Male breast cancer
  • Breast cancer more than once
  • Ovarian, fallopian tube, or peritoneal cancer at any age
  • Breast and ovarian cancer
  • Breast or ovarian cancer at any age and Ashkenazi Jewish ancestry
  • Breast cancer and a relative with breast or ovarian cancer

Who Should Get a BRCA Gene Mutation Test?

Anyone concerned they may be at risk of BRCA mutations should discuss BRCA mutation testing with their healthcare provider or genetic counselor.

The United States Preventive Services Task Force (USPSTF) recommends that primary care physicians assess the risk for women whose personal or family history includes breast, ovarian, fallopian tube, or peritoneal cancer. They also recommend women with an ancestry associated with BRCA1 or BRCA2 mutations have a risk assessment and genetic counseling, if necessary.

The National Comprehensive Cancer Network recommends screening for women with a BRCA1 or BRCA2 mutation or a first-degree relative who has a BRCA1/2 mutation, even if the patient has not been tested for BRCA1/2 mutations.

The American Society of Clinical Oncology recommends that all women diagnosed with ovarian cancer should have germline genetic testing for BRCA1 and BRCA2.

What Are the Benefits of BRCANOW™?

Predict Prognosis for Breast and Ovarian Cancer
BRCA mutation testing gives physicians and genetic counselors more information to predict the prognosis for individuals with a BRCA gene mutation.

Predict Therapeutic Response for Breast and Ovarian Cancer
Determining the BRCA mutation status can impact treatment options since mutations in BRCA1 and BRCA2 can change how an individual reacts to certain drug therapies. Studies show that people with BRCA mutations respond well to drugs like cisplatin and PARP inhibitors.

Predict Risk for Breast and Ovarian Cancer
BRCANOW™ gives you more information on your health so you can take action. A positive result means that you have a mutation that puts you at a high risk of developing breast or ovarian cancer. Because this mutation is hereditary, you should let family members know if you test positive so they can also take the necessary steps to prevent cancer.

If you are at high risk of developing breast or ovarian cancer, you should talk to your healthcare provider about starting to screen for these cancers at a younger age and increasing how often you are screened.

How Does BRCANOW™ Testing Work?

Patient Consult
Speak to your physician or genetic counselor to see if you are a good fit for the BRCA gene mutation test with BRCANOW™.

Sample Collection
BRCANOW™ test can be performed using either a blood or saliva sample. A blood sample is collected at a medical facility. A saliva sample can be provided in a physician’s office or at home.

Sample Processing
Your sample is analyzed in a GoPath laboratory.

Results
The BRCANOW™ report is available in 10 to 14 days.

Test Result Definitions
  • Positive – The test detected a mutation in a BRCA gene, meaning a higher-than-average risk of developing certain cancers.
  • Variant of Unknown Significance (VUS) – The test detected a genetic mutation in a gene that scientists don’t know much about yet.
  • Negative – The test did not detect a variant of the BRCA gene, so the risk of cancer is about the same as the general population.

Paying for BRCANOW™

Many private health insurance companies cover BRCA mutation testing costs. GoPath Laboratories accepts all commercial insurance plans. GoPath Diagnostics will review insurance information and submit a prior authorization request before testing to make sure it is covered and find out what any out-of-pocket costs will be.

If you qualify for a BRCA gene mutation test but are worried about the cost, GoPath offers a financial assistance program that includes discounts and payment plans in accordance with our compliance program and legal guidelines.

References:
  1. https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/genes_hboc.htm
  2. https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/genes_hboc.htm#:~:text=About%203%25%20of%20breast%20cancers,you%20from%20getting%20certain%20cancers.
  3. https://seer.cancer.gov/archive/csr/1975_2017/
  4. https://pubmed.ncbi.nlm.nih.gov/28632866/
  5. https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/brca_gene_mutations.htm
  6. https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/higher_risk_brca.htm
  7. https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing
  8. https://www.nccn.org/guidelines/category_2
  9. https://pubmed.ncbi.nlm.nih.gov/31986064/
  10. https://pubmed.ncbi.nlm.nih.gov/29867226/





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