morinlab.bib
... ...
@@ -1692,7 +1692,7 @@
1692 1692
@article{beaLandscapeSomaticMutations2013,
1693 1693
title = {Landscape of Somatic Mutations and Clonal Evolution in Mantle Cell Lymphoma},
1694 1694
author = {Beà, Sílvia and Valdés-Mas, Rafael and Navarro, Alba and Salaverria, Itziar and Martín-Garcia, David and Jares, Pedro and Giné, Eva and Pinyol, Magda and Royo, Cristina and Nadeu, Ferran and Conde, Laura and Juan, Manel and Clot, Guillem and Vizán, Pedro and Croce, Luciano Di and Puente, Diana A. and López-Guerra, Mónica and Moros, Alexandra and Roue, Gael and Aymerich, Marta and Villamor, Neus and Colomo, Lluís and Martínez, Antonio and Valera, Alexandra and Martín-Subero, José I. and Amador, Virginia and Hernández, Luis and Rozman, Maria and Enjuanes, Anna and Forcada, Pilar and Muntañola, Ana and Hartmann, Elena M. and Calasanz, María J. and Rosenwald, Andreas and Ott, German and Hernández-Rivas, Jesús M. and Klapper, Wolfram and Siebert, Reiner and Wiestner, Adrian and Wilson, Wyndham H. and Colomer, Dolors and López-Guillermo, Armando and López-Otín, Carlos and Puente, Xose S. and Campo, Elías},
1695
- date = {2013-11-05},
1695
+ year = {2013},
1696 1696
journaltitle = {Proceedings of the National Academy of Sciences},
1697 1697
shortjournal = {PNAS},
1698 1698
volume = {110},
... ...
@@ -1702,8 +1702,6 @@
1702 1702
pages = {18250--18255},
1703 1703
issn = {0027-8424, 1091-6490},
1704 1704
doi = {10.1073/pnas.1314608110},
1705
- url = {https://www.pnas.org/content/110/45/18250},
1706
- urldate = {2019-12-21},
1707 1705
abstract = {Mantle cell lymphoma (MCL) is an aggressive tumor, but a subset of patients may follow an indolent clinical course. To understand the mechanisms underlying this biological heterogeneity, we performed whole-genome and/or whole-exome sequencing on 29 MCL cases and their respective matched normal DNA, as well as 6 MCL cell lines. Recurrently mutated genes were investigated by targeted sequencing in an independent cohort of 172 MCL patients. We identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the anti-apoptotic protein BIRC3 and Toll-like receptor 2 (TLR2); and the chromatin modifiers WHSC1, MLL2, and MEF2B. We also found NOTCH2 mutations as an alternative phenomenon to NOTCH1 mutations in aggressive tumors with a dismal prognosis. Analysis of two simultaneous or subsequent MCL samples by whole-genome/whole-exome (n = 8) or targeted (n = 19) sequencing revealed subclonal heterogeneity at diagnosis in samples from different topographic sites and modulation of the initial mutational profile at the progression of the disease. Some mutations were predominantly clonal or subclonal, indicating an early or late event in tumor evolution, respectively. Our study identifies molecular mechanisms contributing to MCL pathogenesis and offers potential targets for therapeutic intervention.},
1708 1706
langid = {english},
1709 1707
keywords = {cancer genetics,cancer heterogeneity,next-generation sequencing}