RNA-binding protein (RBFOX1) inherited polymorphism rs8051518 is not associated with splice factor mutations in myelodysplastic syndromes and myeloproliferative neoplasms
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In recent years, many DNA polymorphisms were linked to the risk of tumor development or poor outcome in cancer patients [1, 2, 3]. Large publicly available datasets of whole exome and whole genome sequencing projects like The Cancer Genome Atlas (TCGA) or the International Cancer Genome Consortium (ICGC) enable the analysis of polymorphisms in thousands of cancer patients in silico. In a very detailed work, Carter et al.  analyzed nearly 6000 cancer patients from the TCGA and ICGC databases and found over 400 genetic interactions between germline polymorphisms and major somatic events, like mutations in driver genes. One noteworthy interaction is an 8-fold increase of SF3B1 mutations when a germline variant in intron 4 (rs8051518) of the RNA-binding protein (RBFOX1) was present. Furthermore, the authors showed an increase of RBFOX1mRNA expression and differentially spliced exon-exon junctions in the presence of the minor allele (rs8051518). This interaction is...
Compliance with ethical standards
The study was approved by the Ethics Committee of Hannover Medical School
Conflict of interest
The authors declare that they have no conflict of interest.
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