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The landscape of somatic copy-number alteration across human cancers #
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Main questions #

Somatic Cancer CNV (SCNA)가 Cancer별로 어떻게 되는지 통합 연구하고자 함

Materials and methods #

SNP array on 3,131 cancer specimens (26 histological types) and determined significant SCNA regions using GISTIC and assess potential cancer-causing genes using GRAIL algorithm.

사용된 데이터는 GEO에 등록되었다. (GSE19399)

Main finding of the paper #

An average of 17% of the genome was amplified and 16% deleted in a typical cancer sample compared to average of 0.35% and less than 0.1% in normal samples

In a typical cancer sample, 25% of the genome is affected by arm-level SCNAs and 10% by focal SCNAs, with 2% overlap.

Pooled analysis of focal SCNAs #

몇몇 Cancer에서 종종 발견되는 158개의 SCNA 영역을 확인함 (76 amplifications and 82 deletions). 가장 자주 발견된 건 MYC amplifications과 CDKN2A/CDKN2B deletions으로 전체 샘플의 14%가 이를 포함하고 있다.

Amplified Oncogenes: MYC, CCN1, ERBB2, CDK4, NKX2-1, MDM2, EGFR, FGFR1, KRAS

Specific gene families and pathways are over-represented among focal SCNAs #

Amplified 유전자 관련 키워드는 Apoptosis임. Anti-apoptotic members of the BCL2 family (MCL1 and BCL2L1)

Second 키워드는 NF-κB 임.

Amplifications of MCL1 and BCL2L1 are associated with MCL1 and BCL2L1 dependence #

BCL2 reduce MYC-induced apoptosis in limphoid cells.

The vast majority of significant focal SCNAs in each cancer type are prevalent across other types #

17개 cancer type 모두 대략 유사함.

Tumorscape 사이트를 통해 축적된 데이터를 확인할 수 있음.

Remaining questions to be addressed #

The biological insight that could be gained from this study #

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