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Cancer gene map

Date: 08 February 2020 Tags: Miscellaneous


A series of new papers in the journal Nature has revealed the most comprehensive gene map ever of the genes whose mutations can trigger a cascade of genetic misbehaviours that eventually lead to cancer.



It is a major international collaboration called the Pan-Cancer Analysis of Whole Genomes (PCAWG), in which researchers have published a series of papers after analysing 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types.



  • PCAWG researchers use the information obtained from whole-genome sequencing to delineate more precisely the parameters that influence tumour evolution, and how it shapes the cancer genome. Looking at cancer through an evolutionary lens can give clues into metastasis and therapy response and resistance.

  • This is the largest genome study ever of primary cancer. Various kinds of cancers required to be studied separately because cancers of different parts of the body often behave very differently from one another.

  • Previous studies had focused on the 1 per cent of the genome that codes for proteins. The Pan-Cancer Project explored, in considerably greater detail, the remaining 99 per cent of the genome, including key regions that control switching genes on and off.

  • This switching on and off of genes is the most important regulatory mechanism in the body so that it functions normally and diseases are kept at bay.

  • The researchers identified 16 types of structural variation signatures in the genes ultimately leading to cancer. Structural variations mean deletion, amplification or reorganisation of genomic segments that range in size from just a few bases to whole chromosomes.


  • The mutations identified by the team have been catalogued. The catalogue, which is already available online, allows doctors and researchers from all over the world to look things up, consult and find information about the cancer of a given patient.

  • The PCAWG has discovered causes of previously unexplained cancers, pinpointed cancer-causing events and zeroed in on mechanisms of development, opening new vistas of personalised cancer treatment to strike at the root of the problem.

  • The process of drug development will have to now kick in with pharmaceutical companies first identifying the compound(s) that target these gene mutations and then it being subjected to the rigours of clinical trials to prove its safety and efficacy. 

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