Somatic mutation in cancer and normal cells

被引：898

作者：

Martincorena, Inigo ^{[1
]}

Campbell, Peter J. ^{[1
,2
]}

机构：

[1] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England

[2] Univ Cambridge, Dept Haematol, Cambridge, England

来源：

SCIENCE | 2015年 / 349卷 / 6255期

关键词：

TERT PROMOTER MUTATIONS; CLONAL HEMATOPOIESIS; PROGENITOR CELLS; DISTINCT PATTERNS; TUMOR TYPES; GENOME; REARRANGEMENT; EVOLUTION; SELECTION; LEUKEMIA;

D O I：

10.1126/science.aab4082

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Spontaneously occurring mutations accumulate in somatic cells throughout a person's lifetime. The majority of these mutations do not have a noticeable effect, but some can alter key cellular functions. Early somatic mutations can cause developmental disorders, whereas the progressive accumulation of mutations throughout life can lead to cancer and contribute to aging. Genome sequencing has revolutionized our understanding of somatic mutation in cancer, providing a detailed view of the mutational processes and genes that drive cancer. Yet, fundamental gaps remain in our knowledge of how normal cells evolve into cancer cells. We briefly summarize a number of the lessons learned over 5 years of cancer genome sequencing and discuss their implications for our understanding of cancer progression and aging.

引用

页码：1483 / 1489

页数：7

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