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Interpretation 216
Tier 2
CHD1
Variants
CHD1 any indel
Primary Sites
Prostate
Tumor Types
Adenocarcinoma
Interpretation

CHD1 (chromodomain helicase DNA protein binding domain 1) gene controls the transcriptional activity across the genome. It is recurrently deleted in 10%-25% of primary and metastatic prostate cancer, and particularly focal homozygous deletions are restricted to ETS-negative tumors. CHD1 deletion may contribute to the distinctive patterns of genomic instability observed in CHD1del tumors.The SPOP-mutant/CHD1-deleted subset of prostate cancer have characteristic molecular features, including high levels of DNA methylation, homogeneous gene expression patterns, distinct somatic copy-number alterations (SCNA), as well as frequent overexpression of SPINK1 mRNA.

Citations
  1. Liu W, et al. Identification of novel CHD1-associated collaborative alterations of genomic structure and functional assessment of CHD1 in prostate cancer. Oncogene 2012;31(35):3939-48
  2. Baca SC, et al. Punctuated evolution of prostate cancer genomes. Cell 2013;153(3):666-77
  3. Barbieri CE, et al. Reprint of: The prostate cancer genome: Perspectives and potential. Urol Oncol 2015;33(2):95-102
Last updated: 2016-02-09 20:13:33 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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