Interactive Prevalence Tables From Multi-Gene Panel Testing

A collaboration between investigators from Mayo Clinic and Ambry Genetics.

Please cite: Hart SN, Polley EC, Yadav S, Goldgar DE, LaDuca H, Couch FJ, and Dolinsky JS. Multi-Gene Panel Testing Prevalence Tables For Cancer Mutations. 2019. doi: https://doi.org/10.1101/19011981

Evaluating results from cases

Panel Selection

This table shows the probability of finding at least 1 pathogenic variant, if that test is ordered. Note that larger panels will always identify higher carrier frequencies, since smaller panels are subsets of larger ones. The first number in parenthesis means the number of mutations found, while the second reports the number of individuals tested.

Mutated Genes

The table below shows the frequency of a mutated gene found in our cohort that matches the criteria for this proband. If the tables and plots are empty, then you have too specific criteria for us to match on. Please try to decrease the number of details you provide.

* See FAQ section for questions regarding the genes and variants used in these calculations.

Personal History

The mutation prevalence provided is calculated based on patients tested at Ambry, some of which had multiple primary cancers. Those cancer types are shown here, within the filters you selected. You can use this information to determine how representative the calculation is for your patient/cohort of interest.

Family History

The mutation prevalence provided is calculated based on patients tested at Ambry with family histories of cancer reported as described below. The family histories shown here are limited to probands within the filters you selected. You can use this information to determine how representative the calculation is for your patient/cohort of interest.

About this application

This website describes basic, aggregated and deidentified clinical and genotype data from patients referred for hereditary cancer multigene panel testing to Ambry Genetics from March 2012 through December 2016. Data were compiled, normalized, and visualized in collaboration from researchers at the Mayo Clinic. The collaborations between Mayo Clinic And Ambry Genetics should not be seen as an endorsement of any company or product.

With our growing database of aggregate clinical data, Ambry Genetics strives to translate this data into meaningful data for clinicians to better understand the relationship between gene mutations and different cancer types.

This interactive tool is designed to help clinicians and researchers understand the prevalence of mutations in patients who have undergone multigene panel testing for hereditary cancer at Ambry Genetics. Using selected demographics and clinical history parameters, this information may help clinicians identify appropriate patients for genetic testing.

This data is based on clinical history and genetic test results data from the first 150,000 hereditary cancer testing panels at Ambry Genetics including our curated phenotypic data such as ER/PR/HER2 status for breast cancer patients.

Frequently asked questions

  • How do I cite these data?
    • Hart SN, Polley EC, Yussef A, Yadav S, Goldgar DE, Hu C, LaDuca H, Smith LP, Fujimoto J, Li S, Couch FJ, and Dolinsky JS. Multi-Gene Panel Testing Prevalence Tables For Cancer Mutations. 2019 https://www.medrxiv.org/content/10.1101/19011981v1

  • Who is the target audience for this application?
    • This application is designed for clinicians to aid in counseling and appropriate test selection. It could also be used by researchers interested in aggregated data from a population of individuals referred for hereditary cancer multigene panel testing.

  • How can I use this data?
    • These data can be used to determine prevalence of mutations in a cohort of patients typically referred for hereditary cancer multigene panels, by panel and by gene, based on specific patient demographic and clinical history information.

  • Can I use this to predict risk of other cancers?
    • This tool was not developed to predict risk of other cancers, but it will show other cancers in a proband and family members that were reported to the genetic testing laboratory. A properly designed case-control study would be needed to establish links between mutation status and multiple cancers.

  • Are moderate risk mutations are included in these calculations?
    • Moderate risk mutations in APC, BRCA1, CDKN2A, CHEK2, PMS2, and TP53 are included.

  • What types of mutations are considered pathogenic for MUTYH?
    • Only biallelic mutation carriers are included in these calculations

  • What types of mutations are used for MITF?
    • Includes reporting of c.952G>A (p.E318K) only

If you have any questions about this tool, please refer to our publication or email hart.steven@mayo.edu.

Version: 1.0.3


Disclaimer: This tool may help clinicians identify patients for genetic testing but it does not replace a full evaluation for hereditary cancer predisposition. Users of the tool should always seek out the most current information about the utility of genetic testing. The tool provides a prediction based on the genetic testing experience of other patients but is not specific to any one individual and thus may not be used directly to make patient treatment decisions.