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Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone

Date:
Saturday, Dec 14, 2019 7:00am – 9:00am
Conference:
CGA-IGC 2019
Authors:
Amal Yussuf, Ann Bunnell, Brigette Tippin Davis, C. Dresbold, Carolyn Horton, Cassie Garcia, Catherine Koptiuch, Chantalle Raimondi, Cristina Ruiz, Daniella Menashe, Danielle Dondanville, Danielle McKenna, Deborah Oleskowicz, Deborah Wham, Deepika Nathan, Diane Samad, Eden Faye, Elizabeth Chao, Elizabeth Hoodfar, Gayle Patel, Holly Laduca, Jen Moore, Jennifer Geurts, Jessica Profato, Jill Dolinsky, John Lee, Kara Milliron, Kate Principe, Khateriaa Pyrtel, Lily Hoang, Meagan Farmer, Meredith Seidel, Morgan Depas, Nichole Morman, Olivia Tan, Rachid Karam, PhD, Rebekah Krukenberg, Rikki Gaber, Rob Pilarski, Samantha Stachowiak, Sandra Jenkinson, Sara Pirzadeh-Miller, Seth Marcus, Shraddha Gaonkar, Trisha Nichols
Collaborators:
  • * Concurrent RNA and DNA genetic testing increases the clinical impact of Lynch syndrome testing.
  • * In this pilot study, RNA sequencing contributed to a 14% relative increase in diagnostic yield for Lynch syndrome overall; this increase was even higher among families with 3 or more individuals with Lynch spectrum cancers.
  • * RNA sequencing also contributed to a 5% relative decrease in inconclusive MMR gene results.
  • * The impact of RNA testing extends beyond the index case. Previously tested patients with the same variants have received reclassification reports and future cases will be able to avoid VUS classifications for these variants.
     
Abstract