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Free keywords:
Cancer-associated germline variant, cancer prognosis, common germline variant, FGFR4 Arg388 variant, gain-of-function FGFR4 gene variant, Membrane-proximal STAT3 signaling, SNP rs351855, STAT3 signaling, Transmembrane variants
Abstract:
In cancer biology, somatic mutations in the extracellular (ligand binding) and cytosolic (functional/catalytic) domains are pursued with great interest. However, in our recent publication we report that germline mutations in the membrane-proximal region of type I receptors are able to modulate the amplitude of signal transducer and activator of transcription 3 (STAT3) signaling in cells. This unexpected finding has implications for the prognosis of heritable cancer.
