Ontology highlight
ABSTRACT:
SUBMITTER: Landrith T
PROVIDER: S-EPMC7039900 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Landrith Tyler T Li Bing B Cass Ashley A AA Conner Blair R BR LaDuca Holly H McKenna Danielle B DB Maxwell Kara N KN Domchek Susan S Morman Nichole A NA Heinlen Christopher C Wham Deborah D Koptiuch Cathryn C Vagher Jennie J Rivera Ragene R Bunnell Ann A Patel Gayle G Geurts Jennifer L JL Depas Morgan M MM Gaonkar Shraddha S Pirzadeh-Miller Sara S Krukenberg Rebekah R Seidel Meredith M Pilarski Robert R Farmer Meagan M Pyrtel Khateriaa K Milliron Kara K Lee John J Hoodfar Elizabeth E Nathan Deepika D Ganzak Amanda C AC Wu Sitao S Vuong Huy H Xu Dong D Arulmoli Aarani A Parra Melissa M Hoang Lily L Molparia Bhuvan B Fennessy Michele M Fox Susanne S Charpentier Sinead S Burdette Julia J Pesaran Tina T Profato Jessica J Smith Brandon B Haynes Ginger G Dalton Emily E Crandall Joy Rae-Radecki JR Baxter Ruth R Lu Hsiao-Mei HM Tippin-Davis Brigette B Elliott Aaron A Chao Elizabeth E Karam Rachid R
NPJ precision oncology 20200224
Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a splicing profile of 18 TSGs (<i>APC</i>, <i>ATM</i>, <i>BRCA1</i>, <i>BRCA2</i>, <i>BRIP1</i>, <i>CDH ...[more]