Advertisement

Annals of Hematology

, Volume 98, Issue 5, pp 1297–1299 | Cite as

RNA-binding protein (RBFOX1) inherited polymorphism rs8051518 is not associated with splice factor mutations in myelodysplastic syndromes and myeloproliferative neoplasms

  • M. Faisal
  • G. Büsche
  • J. Schlue
  • H. Kreipe
  • U. Lehmann
  • S. BartelsEmail author
Letter to the Editor
  • 82 Downloads

Dear Editor,

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. [4] 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...

Notes

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.

References

  1. 1.
    Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF et al (2011) A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet 43:1098–1103.  https://doi.org/10.1038/ng.926 CrossRefGoogle Scholar
  2. 2.
    Galvan A, Ioannidis JP, Dragani TA (2010) Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer. Trends Genet 26:132–141.  https://doi.org/10.1016/j.tig.2009.12.008 CrossRefGoogle Scholar
  3. 3.
    Liu W, He L, Ramírez J, Krishnaswamy S, Kanteti R, Wang Y, Salgia R, Ratain MJ (2011) Functional EGFR germline polymorphisms may confer risk for EGFR somatic mutations in non-small cell lung cancer, with a predominant effect on exon 19 microdeletions. Cancer Res 71:2423–2427.  https://doi.org/10.1158/0008-5472.CAN-10-2689 CrossRefGoogle Scholar
  4. 4.
    Carter H, Marty R, Hofree M, Gross AM, Jensen J, Fisch KM, Wu X, DeBoever C, Van Nostrand EL, Song Y, Wheeler E, Kreisberg JF, Lippman SM, Yeo GW, Gutkind JS, Ideker T (2017) Interaction landscape of inherited polymorphisms with somatic events in Cancer. Cancer Discov 7:410–423.  https://doi.org/10.1158/2159-8290.CD-16-1045 CrossRefGoogle Scholar
  5. 5.
    Arber DA, Orazi A, Hasserjian R, Thiele J, Browitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127:2391–2405.  https://doi.org/10.1182/blood-2016-03-643544 CrossRefGoogle Scholar
  6. 6.
    Bartels S, Schipper E, Hasemeier B, Kreipe H, Lehmann U (2016) Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms. Oncotarget.  https://doi.org/10.18632/oncotarget.8310
  7. 7.
    Bartels S, Lehmann U (2015) Analysis of mutational hotspots in routinely processed bone marrow trephines by pyrosequencing®. Methods Mol Biol.  https://doi.org/10.1007/978-1-4939-2715-9_8
  8. 8.
    Klinck R, Fourrier A, Thibault P, Toutant J, Durand M, Lapointe E, Caillet-Boudin ML, Sergeant N, Gourdon G, Meola G, Furling D, Puymirat J, Chabot B (2014) RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1. PLoS One 9:e107324.  https://doi.org/10.1371/journal.pone.0107324 CrossRefGoogle Scholar
  9. 9.
    Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC (2016) Cytoplasmic Rbfox1 regulates the expression of synaptic and autism-related genes. Neuron 89:113–128.  https://doi.org/10.1016/j.neuron.2015.11.025 CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Institute of PathologyMedizinische Hochschule HannoverHannoverGermany

Personalised recommendations