Associated Genetic Biomarkers
FH Mutation is present in 0.91% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence .
FH Mutation serves as an inclusion eligibility criterion in 4 clinical trials, of which 3 are open and 1 is closed. Of the trials that contain FH Mutation as an inclusion criterion, 1 is phase 1/phase 2 (0 open) and 3 are phase 2 (3 open).
Trials with FH Mutation in the inclusion eligibility criteria most commonly target renal cell carcinoma .
Sintilimab, avelumab, axitinib, metformin, and talazoparib are the most frequent therapies in trials with FH Mutation as an inclusion criteria .
Significance of FH Mutation in Diseases
Renal Cell Carcinoma +
FH is altered in 2.31% of renal cell carcinoma patients with FH Mutation present in 2.01% of all renal cell carcinoma patients .
FH Mutation is an inclusion criterion in 4 clinical trials for renal cell carcinoma, of which 3 are open and 1 is closed. Of the trials that contain FH Mutation and renal cell carcinoma as inclusion criteria, 1 is phase 1/phase 2 (0 open) and 3 are phase 2 (3 open) .
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 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.