IntOGen-mutations identifies cancer drivers across tumor types

By Abel Gonzalez-Perez, Christian Perez-Llamas, Jordi Deu-Pons, David Tamborero, Michael P. Schroeder, Alba Jené-Sanz, Alberto C L Santos, Núria López-Bigas. Nature Methods, 2013

559 citations recorded by the source corpus.

The IntOGen-mutations platform (http://www.intogen.org/mutations/) summarizes somatic mutations, genes and pathways involved in tumorigenesis. It identifies and visualizes cancer drivers, analyzing 4,623 exomes from 13 cancer sites. It provides support to cancer researchers, aids the identification of drivers across tumor cohorts and helps rank mutations for better clinical decision-making.

Subfields: Cancer Research, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/1e8e3236d26b43db59930fcfe84d8b7526bdbed2

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Citations in the corpus

• Mut2Vec: distributed representation of cancerous mutations (2018, methodology): “We focused mainly on retrieving information on the 18 candidate mutations which were not identified as drivers in the IntOGen database.”
• The landscape of genomic alterations across childhood cancers (2018, unknown): “Assessment of high functional impact mutations (OncodriveFM) 29 revealed well-known tumour suppressor genes (TSGs) such as TP53 , ATRX, SMARCA4 , and RB1 , and further putative TSGs, including FMR1 in SHH/WNT medulloblastomas and MALRD1 (also known as C10orf112 ) in rhabdomyosarcomas (Extended Data…”
• Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity (2015, unknown): “So, although we cannot exclude the possibility that the GQ60GK dinucleotide substitution is Pancreatic (317) Colorectal (226) Lung adeno (213) Uterine (49) Multiple myeloma (40) Gastric (30) G12 (688) G13 (86) G60 (6) Q61 (63) K117 (6) A146 (26) KRAS”
• Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma (2017, methodology): “We integrated (i) 71 WGS CCAs, (ii) 188 targeted-sequenced CCAs (Supplementary Table 5), and (iii) 200 exome-sequenced CCA (8), and performed gene significance analyses using MutSigCV (58) and IntOGen (59).”