Breast cancer에서의 Histone lysine methyltransferases (HMTs) 활성에 대한 Meta-analysis을 수행 - 51 human HMTs

다음 유전자들이 예후와 관련됨: SETDB1, SMYD3, ASH1L, SMYD2, WHSC1L1, SUV420H1, SETDB2, and KMT2C

Summary #

Introduction #

HMT의 dysregulation이 암과 관련되어 있는 예,

• WHSC1L1 is amplified and overexpressed.
• EZH2 is overexpressed.

Results #

Genetic alterations of HMTs in breast cancer #

cBioPortal TCGA에서 HMT들의 alteration 빈도를 조사

• Amplified: SMYD3, SETDB1, ASH1L, WHSC1L1, SMYD2, PRDM14, SUV420H1, SETD1A
• Homo deleted: SETDB2, PRDM7
• Mutated: KMT2C, KMT2D

Expression profiling of HMTs in breast cancer #

Copy number와 Gene expression의 상관관계가 높을수록 driver 확률이 높다. 이 결과 분석.

basal-like 와 non basal-like의 차이도 통계분석 - EZH2가 basal-like에서 특히 과발현됨. 반면 WHSC1L1가 non basal-like에서 가장 과발현.

KMT2C and KMT2D mutations in breast cancer #

Ampli cation/overexpression of multiple HMTs from chromosome 1q #

HMT copy number and expression are associated with breast cancer patient survival #

Integrative identification of critical HMTs in breast cancer #

Discussion #

Meterials and methods #

Cell cluture #

Genomic array CGH #

Semiquantitative RT-PCR reactions #

Genomic and clinical data #

Statistical analysis #

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