Prevalence tool

Prevalence tool estimates mutation prevalence in 31 cancer predisposition genes by analyzing an approximately 150,000 multi-gene panel test cohort from Ambry Genetics collected between March 2012 and December 2016 to enable stratified assessment of hereditary cancer-associated variants.

Key Features:

• Comprehensive data integration: Aggregates deidentified clinical and genotype data from approximately 150,000 multi-gene panel tests conducted at Ambry Genetics between March 2012 and December 2016.
• Stratified prevalence analysis: Performs stratified analysis of mutation prevalence across 31 cancer predisposition genes conditioned on ethnicity, age of onset, and personal and family history.
• Ethnicity-specific insights: Provides ethnicity-stratified prevalence estimates with cohort representation including Non-Hispanic White (74%), Black (10,875), Ashkenazi Jewish (10,464), Hispanic (10,028), and Asian (7,090) individuals.
• Cancer type focus: Includes cancer-type annotations with breast (50%), ovarian (6.6%), and colorectal (4.7%) cases represented, reflecting common referral patterns and alignment with prevailing genetic testing guidelines.

Scientific Applications:

• Hereditary cancer risk assessment: Provides mutation prevalence estimates conditioned on patient-specific demographic and clinical features for use in hereditary cancer risk estimation.
• Test selection and prioritization: Informs selection of gene panels and prioritization of testing strategies based on stratified mutation prevalence across genes and patient subgroups.
• Genetic counseling refinement: Enables refinement of counseling and interpretation by quantifying how clinical and demographic factors influence mutation prevalence in a high-risk referral population.

Methodology:

Compiles, normalizes, and visualizes results from a large cohort of multi-gene panel tests; summarizes mutation detection rates across genes and panels; and enables stratified analyses quantifying the influence of clinical and demographic factors on mutation prevalence.