BRCA1 & BRCA2 Test Panel
Multiple genes responsible for hereditary breast cancer have been discovered.
Approximately 25% of hereditary breast cancer is due to mutations in one
of two genes called BRCA1 and BRCA2.
The BRCA1 and BRCA2 genes can protect normal cells from becoming cancerous,
when working properly. However, a change in the genes, called a variant
(also known as a mutation), can affect the ability of the genes to work
properly. Inform Diagnostics's BRCA1 & BRCA2 test panel looks
for disease-causing variants in the BRCA1 and BRCA2 genes. An individual
with a disease-causing variant can have an increased risk of developing
certain types of cancers.
||ASSOCIATED ORGAN SITE
||Breast, Fallopian tubes, Male breast, Ovaries, Pancreas, Prostate
||Breast, Male breast, Ovaries, Pancreas, Prostate
*Biallelic mutations in these genes are associated with autosomal recessive
genetic conditions and are not described in this table.
Who should be tested?
Personal and family cancer histories are important factors used to determine
if hereditary cancer testing is right for a patient. The BRCA1 & BRCA2
Test Panel should be considered for a patient with any of the following
- Cancer diagnosed prior to age 50
- Cancer in three or more close relatives (mother, father, sister, brother
- Multiple primary breast cancers or bilateral breast cancer
- Ovarian cancer at any age
- Breast and ovarian cancer
- Male breast cancer
- Ashkenazi Jewish ancestry
To learn more about testing for your patients,
contact Inform Diagnostics today.
Knowledge of a gene mutation may influence:
- Surgical decisions
- Screening recommendations
- Medication recommendations to reduce breast cancer risk
- Cancer risks for other family members
Mutation carriers have a 50% chance to share the mutation with their parent,
children, and siblings. Testing is the only way to identify mutation carriers.
- Saliva in an Oragene DNA self-collection kit
- 3-5 mL peripheral blood in an EDTA (purple top) tube
Turnaround time is 14 days.
Three test results are possible following genetic testing for hereditary
A disease-causing mutation was identified and the risk for associated cancers
is increased. Lifetime risk estimates depend on which gene has the disease-causing
mutation. For example, a woman who has a BRCA variant can have a 50% to
85% chance of developing breast cancer and a 20% to 45% chance of ovarian
cancer. A man with the BRCA variant may have a 16% to 45% chance of developing
First-degree relatives, including parents, siblings, and children, have
a 50% chance to carry the same mutation. Patients with a positive result
should share their mutation report with their family, so that they can
discuss genetic testing and management recommendation with their physician
and genetic counselor.
No disease-causing mutation was detected in the genes included in this
panel. The significance of a negative result is dependent upon each patient’s
Variant of Unclassified Significance
A genetic change referred to as a variant was identified in one of the
genes in the cancer panel. Variants, which are changes in the gene structure,
may or may not have a harmful effect on how the gene functions. The laboratory
does not have enough information to determine if the variant results in
an increased risk for cancer or not. Additional studies are required to
determine the clinical impact of a variant.
Genetic counselors are available to discuss a patient’s case and/or
help interpret results. Please ask your Inform Diagnostics Sales Director
for more information regarding this service.
Berliner, JL, Fay AM, Cummings SA, et al. NSGC practice guideline: risk
assessment and genetic counseling for hereditary breast and ovarian cancer.
J Genet Couns 2013; Apr:22(2):155-63. (PMID 23188549)
NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk
Assessment: Breast and Ovarian (Version 4.2013)
Available online (login required)
Young SR, et al. The prevalence of BRCA1 mutations among young women with
triple negative breast cancer.
BMC Cancer. 2009 Mar 19;9:86.
Ford D, et al. Genetic heterogeneity and penetrance analysis of the BRCA1
and BRCA2 genes in breast cancer families.
Am J Hum Genet. 1998;62:676-689.