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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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Deep Genetic Connection Between Cancer and Developmental Disorders.

Hongjian Qi1,2, Chengliang Dong3,4, Wendy K Chung5

  • 1Department of Applied Physics and Applied Mathematics, Columbia University, New York, New York.

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|July 2, 2016
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Summary

Cancer driver genes are frequently implicated in developmental disorders (DDs). Tumors can serve as models to identify genetic variants causing DDs, highlighting shared genetic underpinnings between cancer and DDs.

Keywords:
de novo mutationsdevelopmental disorderssomatic mutation hotspotstumor suppressors

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Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • Cancer and developmental disorders (DDs) share common dysregulated cellular processes.
  • Several genes are known to be involved in both cancer and DDs.
  • Quantifying the genetic overlap between these conditions is crucial.

Purpose of the Study:

  • To quantify the genetic connection between cancer and DDs using public data.
  • To investigate the enrichment of damaging de novo variants in cancer driver genes within DD patients.
  • To assess the proportion of DD risk genes that are also cancer drivers.

Main Methods:

  • Analysis of publicly available genetic data from DD patients.
  • Comparison of germline de novo variant enrichment in cancer driver genes versus non-driver genes.
  • Assessment of de novo likely-gene-disrupting variants in tumor suppressors.
  • Localization analysis of damaging missense variants in cancer somatic mutation hotspots.

Main Results:

  • Germline damaging de novo variants are significantly enriched in cancer driver genes among DD patients.
  • Cancer driver genes are estimated to account for approximately one-third of DD risk genes.
  • De novo likely-gene-disrupting variants show enrichment in tumor suppressors.
  • Approximately 40% of implicated de novo damaging missense variants are situated in cancer somatic mutation hotspots.

Conclusions:

  • Genes implicated in DDs often share similar modes of action with those in cancer.
  • Tumors can be utilized as natural models to evaluate the deleterious effects of mutations relevant to germline variants.
  • This approach aids in identifying causal genes and variants for DDs.