Connections between Mendelian Diseases and Cancer
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"If germline genetic variation in Mendelian loci predisposes bearers to common cancers, the same loci may harbour cancer-associated somatic variation. Compilations of clinical records spanning over 100 million patients provide an unprecedented opportunity to assess clinical associations between Mendelian diseases and cancers. We systematically compare these comorbidities against recurrent somatic mutations from more than 5,000 patients across many cancers. Using multiple measures of genetic similarity, we show that a Mendelian disease and comorbid cancer indeed have genetic alterations of significant functional similarity."
---Nature Communications
“Genetic similarity between cancers and comorbid Mendelian diseases identifies candidate driver genes.”
AUTHORS: Rachel Melamed, Kevin Emmett, Chioma Madubata, et al.
LINK TO PUBLICATION:
Nature Communications 2015 April 30; doi:10.1038/ncomms8033.