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Mutational signature #
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Cancer genome의 somatic mutation을 모두 모아, 각 변이를 triplet 96개로 정리하고 이를 갖고 Non-negative matrix factorization (NMF)를 수행하여 특징 signature를 찾아냄 (

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) #

  1. MS1: 긴 tandem repeat 특징: BRCA1, BRCA2 변이 없으나 다소 유사
  2. MS2: non clustered translocation
  3. MS3: 짧은 tandem repeat 특징: BRCA1 null
  4. MS4: clustered translocation
  5. MS5: deletion: BRCA1 or BRCA2 null
  6. MS6

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