Hereditary Risk Assessment
Inform Diagnostics offers comprehensive hereditary risk assessment with
OncAware Complete, a multi-gene next-generation sequencing (NGS) panel
of 27 genes associated with high lifetime risk of eight major cancers.
The panel is offered by Inform Diagnostics and Baylor Genetics.
Following our academic approach to medicine, pathogenic and novel variants
detected by NGS are confirmed by Sanger sequencing to ensure an accurate
result. Results include expert interpretation followed by recommendation
based on your patient’s specific genetic mutation(s).
Why Choose A Multi-Gene Hereditary Cancer Panel?
Answers—Multi-gene testing is more efficient because more than one gene
may explain presentation and family history
Turnaround Time—Concurrent analysis of genes reduces the need for multiple tests
Cost—Multi-gene testing costs less than sequentially testing single genes
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 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.
- 3–5 mL peripheral blood in an EDTA (purple top) tube
Turnaround time is four weeks.
Three test results are possible with the OncAware Complete assessment:
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.