Genome doubling shapes the evolution and prognosis of advanced cancers

被引：450

作者：

Bielski, Craig M. ^{[1
]}

Zehir, Ahmet ^{[2
]}

Penson, Alexander V. ^{[3
,4
]}

Donoghue, Mark T. A. ^{[1
]}

Chatila, Walid ^{[3
]}

Armenia, Joshua ^{[3
]}

Chang, Matthew T. ^{[3
,4
,7
]}

Schram, Alison M. ^{[5
]}

Jonsson, Philip ^{[3
,4
]}

Bandlamudi, Chaitanya ^{[1
]}

Razavi, Pedram ^{[5
]}

Iyer, Gopa ^{[5
]}

Robson, Mark E. ^{[5
]}

Stadler, Zsofia K. ^{[5
]}

Schultz, Nikolaus ^{[1
,3
]}

Baselga, Jose ^{[4
,5
]}

Solit, David B. ^{[1
,4
,5
,6
]}

Hyman, David M. ^{[5
,6
]}

Berger, Michael F. ^{[1
,2
]}

Taylor, Barry S. ^{[1
,3
,4
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Marie Josee & Henry R Kravis Ctr Mol Oncol, 1275 York Ave, New York, NY 10021 USA

[2] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA

[3] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA

[4] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, 1275 York Ave, New York, NY 10021 USA

[5] Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA

[6] Cornell Univ, Dept Med, Weill Cornell Med Coll, New York, NY 10021 USA

[7] Genentech Inc, San Francisco, CA USA

来源：

NATURE GENETICS | 2018年 / 50卷 / 08期

基金：

美国国家卫生研究院;

关键词：

COPY NUMBER ALTERATION; BREAST-CANCER; CHROMOSOMAL INSTABILITY; HUMAN-CELLS; MUTATIONS; POLYPLOIDY; TOLERANCE; TETRAPLOIDIZATION; CONSEQUENCES; MANAGEMENT;

D O I：

10.1038/s41588-018-0165-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Ploidy abnormalities are a hallmark of cancer, but their impact on the evolution and outcomes of cancers is unknown. Here, we identified whole-genome doubling (WGD) in the tumors of nearly 30% of 9,692 prospectively sequenced advanced cancer patients. WGD varied by tumor lineage and molecular subtype, and arose early in carcinogenesis after an antecedent transforming driver mutation. While associated with TP53 mutations, 46% of all WGD arose in TP53-wild-type tumors and in such cases was associated with an E2F-mediated G1 arrest defect, although neither aberration was obligate in WGD tumors. The variability of WGD across cancer types can be explained in part by cancer cell proliferation rates. WGD predicted for increased morbidity across cancer types, including KRAS-mutant colorectal cancers and estrogen receptor-positive breast cancers, independently of established clinical prognostic factors. We conclude that WGD is highly common in cancer and is a macro-evolutionary event associated with poor prognosis across cancer types.

引用

页码：1189 / +

页数：11

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