High-Risk Hereditary Breast Cancer 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. Another 20% is due to other known
hereditary cancer genes. Identifying an underlying genetic mutation is
important in order to assess a person’s future cancer risks, allowing
for personalized medical recommendations in regard to cancer screening
and risk reduction options.
The High-Risk Hereditary Breast Cancer Panel includes seven genes associated
with high lifetime risk of eight major cancers: breast, melanoma, pancreatic,
gastrointestinal, ovarian, prostate, endometrial, colorectal.
Please note that the genes listed above have also been associated with
other organ sites for increasing cancer susceptibility.
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.