Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone
* 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.
Authors: Holly LaDuca; Lily Hoang; Jill Dolinsky; Jessica Profato; Amal Yussuf; Carolyn Horton; Ann Bunnell; C. Dresbold; 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 Hoodfar; Gayle Patel; Jen Moore; Jennifer Geurts; John Lee; Kara Milliron; Kate Principe; Khateriaa Pyrtel; Meagan Farmer; Meredith Seidel; Morgan Depas; Nichole Morman; Olivia Tan; Rebekah Krukenberg; Rikki Gaber; Rob Pilarski; Samantha Stachowiak; Sandra Jenkinson; Sara Pirzadeh-Miller; Seth Marcus; Shraddha Gaonkar; Trisha Nichols; Brigette Tippin Davis; Elizabeth Chao; Rachid Karam
Collaborators: Advocate Medical Group; Aurora Healthcare; Cedar Sinai Medical Center; Community Health Network; Dana Farber Cancer Institute; Froedtert & Medical College of Wisconsin; Huntsman Cancer Institute; Kaiser Permanente; Massachusetts General Hospital Cancer Center; Ohio Health; Ohio State University (OSU); Texas Oncology; University of Alabama; University of California, Irvine; University of Michigan; University of Pennsylvania; University of Texas Southwestern Medical Center