Fig 2.tif (406.86 kB)
Cumulative percentage plots of variant burdens.
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posted on 2018-04-11, 17:34 authored by Antonia L. Pritchard, Peter A. Johansson, Vaishnavi Nathan, Madeleine Howlie, Judith Symmons, Jane M. Palmer, Nicholas K. HaywardThe numbers of variants present at a frequency of <1:2000 in Kaviar in each of the gene classification lists (‘cancer’ genes and DNA repair genes) were calculated for each individual in the multiple cancer patients and the UK10K controls. The cumulative percentage of individuals with a given ‘burden’ of variants was then calculated and plotted for each cohort. A) The cumulative percentage plots of variant burden for all ‘cancer’ genes in the multiple cancer cases (blue) compared to the UK10K controls (red). B) The cumulative percentage plots of variant burden for DNA repair genes in the multiple cancer cases (blue) compared to the UK10K controls (red).
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31 autosomal recessive cancer predisposition genescandidate predisposition genesSRSFexome sequence dataautosomal recessive cancer syndromesJAKpatients form partCMTYK1Bcancer types3B3A10KBUBROSSFDNMTsilico prediction toolsUKautosomal recessive genesPOLEcutaneous melanomatyrosine kinase genescancer predisposition mutationsTETDNA repair pathway1358 control individualsPatient blood samples
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