Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia.

@article{Adamia2008InheritedAA,
  title={Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia.},
  author={Sophia Adamia and Amanda A Reichert and Hemalatha Kuppusamy and Jitra Kriangkum and Anirban Ghosh and Jennifer J Hodges and Patrick M. Pilarski and Steven P Treon and Michael J. Mant and T. H. Reiman and Andrew R. Belch and Linda M. Pilarski},
  journal={Blood},
  year={2008},
  volume={112 13},
  pages={5111-21}
}
To characterize genetic contributions toward aberrant splicing of the hyaluronan synthase 1 (HAS1) gene in multiple myeloma (MM) and Waldenstrom macroglobulinemia (WM), we sequenced 3616 bp in HAS1 exons and introns involved in aberrant splicing, from 17 patients. We identified a total of 197 HAS1 genetic variations (GVs), a range of 3 to 24 GVs/patient, including 87 somatic GVs acquired in splicing regions of HAS1. Nearly all newly identified inherited and somatic GVs in MM and/or WM were… CONTINUE READING

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