Open AccessMolecular Modeling and Functional Analysis of Exome Sequencing–Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma
Author(s) -
Jan B. Egan,
David L. Marks,
Tara L. Hogenson,
Anne M. Vrabel,
Ashley N. Sigafoos,
Ezequiel J. Tolosa,
Ryan M. Carr,
Stephanie L. Safgren,
Elisa Enriquez Hesles,
Luciana L. Almada,
Paola A. Romecin Duran,
Eriko Iguchi,
Aryan Ala'Aldeen,
Jean Pierre A. Kocher,
Gavin R. Oliver,
Naresh Prodduturi,
David Mead,
Asif Hossain,
Norine E. Huneke,
Colleen M. Tagtow,
Sikander Ailawadhi,
Stephen M. Ansell,
Michaela S. Banck,
Alan H. Bryce,
Estrella M. Carballido,
Asher ChananKhan,
Kelly K. Curtis,
Ernesto Resnik,
Chelsea D. Gawryletz,
Ronald S. Go,
Thorvardur R. Halfdanarson,
Thai H. Ho,
Richard W. Joseph,
Prashant Kapoor,
Aaron S. Mansfield,
Nathalie Meurice,
Amulya A. Nageswara Rao,
Grzegorz S. Nowakowski,
Animesh Pardanani,
Sameer A. Parikh,
John C. Cheville,
Andrew L. Feldman,
Ramesh K. Ramanathan,
Steven I. Robinson,
Raoul Tibes,
Heidi D. Finnes,
Jennifer B. McCormick,
Robert R. McWilliams,
Aminah Jatoi,
Mrinal M. Patnaik,
Alvin C. Silva,
Eric D. Wieben,
Tammy M. McAllister,
Kandelaria M. Rumilla,
Sarah E. Kerr,
Konstantinos N. Lazaridis,
Gianrico Farrugia,
A. Keith Stewart,
Karl J. Clark,
Eileen J. Kennedy,
Eric W. Klee,
Mitesh J. Borad,
Martín E. Fernández-Zapico
Publication year - 2017
Publication title -
jco precision oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.405
H-Index - 22
ISSN - 2473-4284
DOI - 10.1200/po.17.00018
Subject(s) - in silico , biology , gene , clinical significance , computational biology , mutation , genetics , exome , exome sequencing , bioinformatics , medicine , pathology
Genomic testing has increased the quantity of information available to oncologists. Unfortunately, many identified sequence alterations are variants of unknown significance (VUSs), which thus limit the clinician's ability to use these findings to inform treatment. We applied a combination of in silico prediction and molecular modeling tools and laboratory techniques to rapidly define actionable VUSs.