The genetic causes of cancer include both somatic mutations and inherited germline variants. Large-scale tumor sequencing has revolutionized the identification of somatic driver alterations but has had limited impact on the identification of cancer predisposition genes (CPGs). Here we present a statistical method, ALFRED, that tests Knudson’s two-hit hypothesis to systematically identify CPGs from cancer genome data. Applied to ~10,000 tumor exomes the approach identifies known and putative CPGs – including the chromatin modifier NSD1 – that contribute to cancer through a combination of rare germline variants and somatic loss-of-heterozygosity (LOH).
Original Source [2]
Links:
[1] http://admin.indiaenvironmentportal.org.in/feature-article/systematic-discovery-germline-cancer-predisposition-genes-through-identification
[2] https://www.nature.com/articles/s41467-018-04900-7
[3] http://admin.indiaenvironmentportal.org.in/category/author/solip-park
[4] http://admin.indiaenvironmentportal.org.in/category/author/fran-supek
[5] http://admin.indiaenvironmentportal.org.in/category/author/ben-lehner
[6] http://admin.indiaenvironmentportal.org.in/category/journal/nature-communications
[7] http://admin.indiaenvironmentportal.org.in/category/thesaurus/cancer
[8] http://admin.indiaenvironmentportal.org.in/category/thesaurus/medical-research
[9] http://admin.indiaenvironmentportal.org.in/category/thesaurus/genetic-disorders