15. ClinGen Somatic Cancer expert curation panel for FGFR genes in Genitourinary Cancer

Genomic aberrations disrupting fibroblast growth factor receptors (FGFR) signalling have been implicated in several human cancers and are an emerging focus of targeted therapies. While routine large-scale sequencing has resulted in the identification of numerous variants in the FGFR genes, these variants have never been uniformly and comprehensively classified for their clinical significance has been challenging due to their rarity. Thus, we formed the ClinGen FGFR Somatic Cancer Variant Curation Expert Panel (SC-VCEP) to standardize interpretation of FGFR gene variants, principally in FGFR3, but also FGFR1, FGFR2 and FGFR4 through adaptation of AMP/ASCO/CAP[PMID:27993330] and ClinGen/CGC/VICC [PMID: 35101336] guidelines.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: Ian King, Jason Saliba, Arpad Danos, Ariana Gonzalez, Bethany Baumann, Christine Walko, Erin McMullin, Gokce Toruner, Jeanine Ruggeri, Sayed Ali Hosseini, Kara Bui, Amber Pryzbylski, Sameek Roychowdhury, Shashikant Kulkarni, Obi L. Griffith, Malachi Griff Source Type: research