1/6: Splicing factor mutations are very common in hematologic diseases such as MDS, AML, and CLL, as well as in solid tumors. These mutations almost always occur as "hotspot" missense mutations affecting a few residues.
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2/6: Because of this stereotyped pattern, we and other researchers have frequently assumed that only "hotspot" mutations drive disease, and that other, non-hotspot mutations that are sometimes observed in patients are not pathogenic.
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3/6: We tested this assumption by systematically introducing 14 different rare or private (only reported in a single patient) mutations in SRSF2 and U2AF1 into leukemic cells and testing whether any non-hotspot mutations phenocopied hotspot mutations.
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4/6: To our surprise, most of the rare and private mutations that we tested generated partial or complete phenocopies of hotspot mutations. A few rare mutations even introduced "dual" phenocopies that mimicked two co-occurring hotspot mutations.
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5/6: These data indicate that rare and even private mutations affecting recurrently mutated splieosomal genes should be considered as potentially pathogenic in both basic and clinical studies.
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6/6: Thank you
@LLSResearch@EdwardPEvansFdn@ASH_hematology@AACR@nih_nhlbi@NIDDKgov@theNCI and others for supporting this work!Prikaži ovu nit
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