Solving Missing Heritability in Familial Adenomatous Polyposis Patients Using Paired DNA-RNA Testing

Wednesday, May 29, 2024

4:00am PDT

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

Up to 10% of familial adenomatous polyposis (FAP) patients and as high as 50% of attenuated FAP patients have not had a casual pathogenic variant identified in the APC gene. The identification of a causal variant can inform both patient treatment and guide reproductive decisions for future family planning. This presentation will discuss missing heritability for individuals with FAP and discuss how the use of concurrent germline DNA testing with RNA transcript analysis can be used to identify previously unidentified alterations in the deep intronic regions of APC in patients with FAP.

Level of Instruction: Basic

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Sarah Campian

Genomic Science Liaison, Ambry Genetics

Sarah Campian joined Ambry Genetics in 2018 after four years as a clinical cancer genetic counselor at the Grosfeld Cancer Genetics Center at Beaumont Health in Royal Oak, Michigan. She is a Senior Genomic Science Liaison, supporting Ambry’s oncology and reproductive health product lines. In her role, Sarah provides clinical support and education to healthcare […]

Sarah Campian joined Ambry Genetics in 2018 after working for four years as a clinical cancer genetic counselor at the Grosfeld Cancer Genetics Center at Beaumont Health in Royal Oak, Michigan. She is a Senior Genomic Science Liaison, working with genetic counselors and other healthcare professionals ordering covering Michigan, Ohio, and Indiana territories. In addition to providing education and clinical support for healthcare providers, she coordinates Case Café, a national educational genetics case conference webinar series and is a lead regional field trainer at Ambry. Sarah received her Bachelors of Science degree in Biology from Saginaw Valley State University. She earned her Masters of Science degree in Genetic Counseling from Wayne State University and is certified by the American Board of Genetic Counseling.