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
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.
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.
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.
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.
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.
If you have any questions about this tool, please refer to our publication or email firstname.lastname@example.org.
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.