Research and Collaborations

We have partnered with collaborators to securely share our scientific data for more than 15 years. It is through these efforts that we have been able to carefully advance our collective understanding of human genomic variation and inherited disease, and responsibly apply genetic technologies in the era of genomics.

2017 AACR Presentations


    Hereditary risks of male breast cancer in a multi-gene panel testing cohort

    Category: Molecular and Cellular Biology / Genetics
    Abstract Number: 3406
    Session Title: Genotype-Phenotype Associations
    Date and Time: April 4, 2017, 8:00 - 12:00 PM
    Location: Section 17, Board Number 7
    Description The high overall diagnostic yield (18%) suggests the utility of testing all male breast cancer patients regardless of age or family history by multigene panel testing, and provides data to support risk-based counseling and medical recommendations for screening and/or prevention in male mutation carriers

    Multigene panel testing and risk estimates in 10,233 ovarian cancer cases

    Category: Epidemiology
    Abstract Number: 1287
    Session Title: Genetic Variation (Non-GWAS) and Cancer Risk, Prognosis, or Mechanisms
    Date and Time: Monday April 3rd, 2017 8am-12pm
    Location: Convention Center, Halls A-C, Poster Section 11, Board Number 18
    Description This study generated relative risks for ovarian cancer for hereditary cancer genes routinely screened on multigene panel testing, some of which confer high or moderate risk of ovarian cancer while others were not associated with clinically relevant ovarian cancer risk.

    What have we learned from pancreatic cancer patients undergoing multigene panel testing

    Category: Epidemiology
    Abstract Number: 4286
    Session Title: Familial and Hereditary Cancers
    Date and Time: Tuesday Apr 4, 2017 1:00 PM - 5:00 PM
    Location: Convention Center, Halls A-C, Poster Section 12, Board Number 22
    Description These findings shed light on the spectrum of mutations that can be expected for patients with pancreatic cancer referred for cancer predisposition testing and identified a relative risk for pancreatic cancer associated with several genes routinely screened on hereditary cancer panels.

    Alternative splicing analysis identifies mutation hotspots in hereditary breast and ovarian cancer genes

    Category: Epidemiology
    Abstract Number: 1450
    Session Title: Genomics in Inherited Susceptibility and Preneoplastic Conditions
    Date and Time: Monday Apr 3, 2017 8:00 AM - 12:00 PM
    Location: Convention Center, Halls A-C, Poster Section 17, Board Number 19
    Description Similar to Sanger sequencing, our RT-PCR NGS assay detected all major splicing events and also allowed us to visualize more minor splicing events. RT-PCR NGS is a reliable high-throughput alternative to the gold-standard splicing assays.


Research Spotlight

  • Mayo Clinic Partners with Ambry in Largest Hereditary Breast Cancer Patient Study to Date

    Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients.

    Fergus Couch, et al. Ambry authors: Robina Smith, Melissa Pronold, Robert Huether, Carin Espenschied, Shuwei Li, Tina Pesaran, Rachel McFarland, Holly LaDuca, Jill Dolinsky
    Quick Take: Mayo Clinic and University of Utah researchers collaborated with Ambry Genetics to study more than 60,000 women diagnosed with breast cancer over a four-year period, with >90% of them meeting National Comprehensive Cancer Network (NCCN®) hereditary breast ovarian cancer (HBOC) testing criteria. All had germline testing using multi-gene panels performed at Ambry. This represents the largest genetic study to date of women with breast cancer, and offers new information about genes that may or may not contribute to breast cancer risk.


Stay in the Gnome


Click here to view all of our peer-reviewed publications, organized by general topic/product line.

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