Cancer genome의 somatic mutation을 모두 모아, 각 변이를 triplet 96개로 정리하고 이를 갖고 Non-negative matrix factorization (NMF)를 수행하여 특징 signature를 찾아냄 (http://cancer.sanger.ac.uk/cosmic/signatures)
Table of Contents
치환 변이 시그니처 (Substitutional mutation signature) #
| Signature | DNA damage | DNA repair pathway | 비고 |
|---|---|---|---|
| Signature 1 | methyl CpG deamination | Replicative polymerases | Ageing |
| Signature 2, 13 | APOBEC editing | Base exision repair with 'A-rule' or with ecess of REV1 activity | . |
| Signature 3, 8 | BRCA1/BRCA2 관련 | Homologous recombination | . |
| Signature 4, 24 | Benzo[a]pyrene adducts on G, Aflatoxin adducts on G | Transcription-coupled repair | 흡연 |
| Signature 6, 20 | Natural error | DNA mismatch repair | . |
| Signature 7 | UV radiation on pyridimines and dipyrimidines | Transcription-coupled repair | Melanoma |
| Signature 10 | Natural error | Defective DNA polymerase e | . |
| Signature 11 | Temozolomide-induced O5-methyl-guanine lesions | Direct repair using methyl-G DNA methyltransferase | . |
| Signature 22 | Aristolochic acid adducts on A | Transcription-coupled repair | . |
Indel 변이 시그니처 (Indel mutation signature) #
구조변이 시그니처 (Rearrangement signature) #
- MS1: 긴 tandem repeat 특징: BRCA1, BRCA2 변이 없으나 다소 유사
- MS2: non clustered translocation
- MS3: 짧은 tandem repeat 특징: BRCA1 null
- MS4: clustered translocation
- MS5: deletion: BRCA1 or BRCA2 null
- MS6
관련 논문 #
- Portrait of a cancer: mutational signature analyses for cancer diagnostics BMC Genomics : 임상에 응용하는 것 관련 리뷰
- Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations PLOS Genetics
- Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis Nature Communications : Liver cancer에서 확인
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