Associated Genetic Biomarkers
FGFR2 S252W is present in 0.13% of AACR GENIE cases, with uterine corpus neoplasm, ovarian neoplasm, bladder carcinoma, breast carcinoma, and cancer of unknown primary having the greatest prevalence .
FGFR2 S252W serves as an inclusion eligibility criterion in 1 clinical trial, of which 0 are open and 1 is closed. Of the trial that contains FGFR2 S252W as an inclusion criterion, 1 is no phase specified (0 open).
Significance of FGFR2 S252W in Diseases
Endometrioid Adenocarcinoma +
FGFR2 is mutated in 12.68% of endometrioid adenocarcinoma patients with FGFR2 S252W present in 4.88% of all endometrioid adenocarcinoma patients .
FGFR2 S252W is an inclusion criterion in 1 clinical trial for endometrioid adenocarcinoma, of which 0 are open and 1 is closed. Of the trial that contains FGFR2 S252W and endometrioid adenocarcinoma as inclusion criteria, 1 is no phase specified (0 open) .
Ponatinib is the most frequent therapy in trials for endometrioid adenocarcinoma that contain FGFR2 S252W .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.
Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.