Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

By Jens G. Lohr, P. Stojanov, M. Lawrence, D. Auclair, B. Chapuy, C. Sougnez, Peter Cruz-Gordillo, B. Knoechel, Yan W. Asmann, S. Slager and 24 more. Proceedings of the National Academy of Sciences of the United States of America, 2012

1,002 citations recorded by the source corpus.

Subfields: Molecular Biology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/ea47ebb72225fcfe68898240dfcaad495b8ffc6a

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

In Pathology and Forensic Medicine

Citations in the corpus

A Landscape of Driver Mutations in Melanoma (2012, methodology): “Although methods to account for this mutation rate heterogeneity are an active area of research (Chapman et al., 2011; Greenman et al., 2006; Lohr et al., 2012), rigorous approaches to address this challenge in melanoma have been lacking.”
Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy (2014, neutral): “Of the remaining 18% of tumors lacking such obviously functionally important mutations, some are likely to be driven by rare mutations in bona fide driver genes (e.g., the tumors with mutations in MYD88 or CARD11, previously reported to be recurrently mutated in the B cell malignancy DLBCL [Lohr et ”
Age-related clonal hematopoiesis associated with adverse outcomes. (2014, positive): “Sequencing studies have identified a set of recurrent mutations in several types of hematologic cancers.(12-24) However, the frequency of these somatic mutations in the general population is unknown.”
Lessons from the cancer genome. (2013, neutral): “Whereas activating NOTCH1/ 2 mutations had been reported in various blood cancers (Lohr et al., 2012; Pasqualucci et al., 2011b; Puente et al., 2011; Weng et al., 2004), the NOTCH mutations in HNSCC were clearly loss-of-function events.”
Discovery and Characterization of Super-Enhancer Associated Dependencies in Diffuse Large B-Cell Lymphoma (2013, neutral): “These tumors exhibit multiple low frequency copy number alterations (CNAs), additional chromosomal translocations and over 50 recurrent somatic mutations (Lohr et al., 2012; Monti et al., 2012; Morin et al., 2011; Pasqualucci et al., 2011).”
EZH2 is required for germinal center formation and somatic EZH2 mutations promote lymphoid transformation (2013, background): “These data, along with the recent identification of frequent loss-of-function mutations in the histone methyltransferase protein MLL2 in B cell lymphomas (Lohr et al., 2012; Morin et al., 2011), suggest that the balance of H3K4me3 and H3K27me3 is disrupted and represents a therapeutic target in lymp”
Heterogeneity of genomic evolution and mutational profiles in multiple myeloma (2014, positive): “…of cytosine and adenine mutations and the high synonymous to non-synonymous ratio suggest CCND1 mutation clusters may result from somatic hypermutation driven by the AID protein 29,30 , as previously described for CCND1 itself in mantle cell lymphoma 31 and for BCL2 in follicular lymphomas 32 .”
Discovery and saturation analysis of cancer genes across 21 tumor types (2014, background): “(8) Protein homeostasis—One gene, TRIM23, is involved in protein homeostasis.”