Database developments

July 2019, R20

  • This R20 release compiles data on around 29900 somatic mutations, 9200 variants reported in SNP databases, 1530 cancer families/individual carriers of a germline mutation, 2700 cell-lines, 900 experimentally induced mutations, and functional data on over 9000 mutant proteins. Variant descriptions are provided on both hg19 and hg38 genome builds.
  • Mutation descriptions have been revised to better comply with HGVS nomenclature.
  • The dataset of germline mutations (germline variants in cancer patients/families) has been updated with data published between June 2018 and June 2019.
  • A new dataset including NGS studies reporting the frequency of individual TP53 germline mutations in case-control series is provided.
  • A large dataset on the functional impact of over 8200 p53 mutant proteins (Giacomelli et al., 2018) has been curated to add a new classification reflecting loss of function and dominant-negative effects (DNE_LOF class). A link to a website providing interactive access to these data is provided.
  • Four papers on funtional activities of mutant proteins have been curated.
  • Data on polymorphisms (variants frequent in healthy human populations) have been curated to include most recent data from dbSNP152 and gnomAD databases. Allelic frequencies have been retrieved from these databases to classify variants as "validated polymorphisms" if they are found at MAF>=0.001.
  • The dataset of somatic mutations is no longer updated as most new data are available in several other data portals (cBioportal, GENIE, COSMIC, ICGC). Instead, somatic mutation counts from TCGA, ICGC and GENIE datasets for each individual mutation is provided.
  • For data on TP53 status in cell-lines, a new link to the depmap resource has been created.
  • Mutation data from CLINVAR, June 2019 release, were curated.
  • Links to COSMIC, CLINVAR, gnomAD and dbSNP have been updated.
  • The dataset of induced mutations is unchanged as no new data were found.
August 2018, R19
April 2016, R18
November 2013, R17
November 2012, R16
November 2010, R15
November 2009, R14
November 2008, R13
November 2007, R12
November 2006, R11
November 2005, R10
July 2005, R10
July 2004, R9
June 2003, R8
September 2002, R7
January 2002, R6
June 2001, R5
July 2000, R4