Article
Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.
The Journal of experimental medicine - 27 Aug 2012
Kiel Mark J, Velusamy Thirunavukkarasu, Betz Bryan L, Zhao Lili, Weigelin Helmut G, Chiang Mark Y, Huebner-Chan David R, Bailey Nathanael G, Yang David T, Bhagat Govind, Miranda Roberto N, Bahler David W, Medeiros L Jeffrey, Lim Megan S, Elenitoba-Johnson Kojo S J
Abstract excerpt
Splenic marginal zone lymphoma (SMZL), the most common primary lymphoma of spleen, is poorly understood at the genetic level. In this study, using whole-genome DNA sequencing (WGS) and confirmation by Sanger sequencing, we observed mutations identified in several genes not previously known to be recurrently altered in SMZL. In particular, we identified recurrent somatic gain-of-function mutations in NOTCH2, a...
Topics
- Aged
- Female
- Genome, Human
- Humans
- Lymphoma, B-Cell
- Male
- Middle Aged
- Mutation
- Protein Structure, Tertiary
- Receptor, Notch2