Copy number signatures and mutational processes in ovarian carcinoma

被引：271

作者：

Macintyre, Geoff ^{[1
]}

Goranova, Teodora E. ^{[1
]}

De Silva, Dilrini ^{[1
]}

Ennis, Darren ^{[2
]}

Piskorz, Anna M. ^{[1
]}

Eldridge, Matthew ^{[1
]}

Sie, Daoud ^{[3
]}

Lewsley, Liz-Anne ^{[4
]}

Hanif, Aishah ^{[4
]}

Wilson, Cheryl ^{[4
]}

Dowson, Suzanne ^{[2
]}

Glasspool, Rosalind M. ^{[5
]}

Lockley, Michelle ^{[6
,7
]}

Brockbank, Elly ^{[8
]}

Montes, Ana ^{[9
]}

Walther, Axel ^{[10
]}

Sundar, Sudha ^{[11
]}

Edmondson, Richard ^{[12
,13
]}

Hall, Geoff D. ^{[14
]}

Clamp, Andrew ^{[15
]}

Gourley, Charlie ^{[16
]}

Hall, Marcia ^{[17
]}

Fotopoulou, Christina ^{[18
]}

Gabra, Hani ^{[18
,19
]}

Paul, James ^{[4
]}

Supernat, Anna ^{[1
]}

Millan, David ^{[20
]}

Hoyle, Aoisha ^{[20
]}

Bryson, Gareth ^{[20
]}

Nourse, Craig ^{[2
]}

Mincarelli, Laura ^{[2
]}

Sanchez, Luis Navarro ^{[2
]}

Ylstra, Bauke ^{[3
]}

Jimenez-Linan, Mercedes ^{[21
]}

Moore, Luiza ^{[21
]}

Hofmann, Oliver ^{[2
,22
]}

Markowetz, Florian ^{[1
]}

McNeish, Iain A. ^{[2
,5
,18
]}

Brenton, James D. ^{[1
,21
,23
]}

机构：

[1] Canc Res UK Cambridge Inst, Cambridge, England

[2] Univ Glasgow, Inst Canc Sci, Glasgow, Lanark, Scotland

[3] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands

[4] Univ Glasgow, Inst Canc Sci, Cancer Res UK Clin Trials Unit, Glasgow, Lanark, Scotland

[5] Beatson West Scotland Canc Ctr, Glasgow, Lanark, Scotland

[6] Queen Mary Univ London, Barts Canc Inst, London, England

[7] Univ Coll London Hosp, London, England

[8] Barts Hlth NHS Trust, London, England

[9] Guys Hosp, London, England

[10] Bristol Canc Inst, Bristol, Avon, England

[11] City Hosp, Birmingham, W Midlands, England

[12] Univ Manchester, St Marys Hosp, Fac Biol Med & Hlth, Div Canc Sci, Manchester, Lancs, England

[13] Manchester Acad Hlth Sci Ctr, Cent Manchester NHS Fdn Trust, St Marys Hosp, Manchester Acad Hlth Sci Ctr,Dept Obstet & Gynaec, Manchester, Lancs, England

[14] St Jamess Inst Oncol, Leeds, W Yorkshire, England

[15] Christie Hosp, Manchester, Lancs, England

[16] Univ Edinburgh, MRC IGMM, Nicola Murray Ctr Ovarian Canc Res, Edinburgh, Midlothian, Scotland

[17] Mt Vernon Canc Ctr, Northwood, Middx, England

[18] Imperial Coll, Dept Surg & Canc, Div Canc & Ovarian Canc Action Res Ctr, London, England

[19] AstraZeneca, Early Clin Dev, IMED Biotech Unit, Cambridge, England

[20] Queen Elizabeth Univ Hosp, Dept Pathol, Glasgow, Lanark, Scotland

[21] Addenbrookes Hosp, Cambridge, England

[22] Univ Melbourne, Ctr Canc Res, Melbourne, Vic, Australia

[23] Univ Cambridge, Dept Oncol, Cambridge, England

来源：

NATURE GENETICS | 2018年 / 50卷 / 09期

关键词：

TANDEM DUPLICATOR PHENOTYPE; GRADE SEROUS CARCINOMA; BREAST-CANCER; OPEN-LABEL; R PACKAGE; DNA; REVEALS; QUANTIFICATION; IDENTIFICATION; AMPLIFICATION;

D O I：

10.1038/s41588-018-0179-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genomic complexity of profound copy number aberrations has prevented effective molecular stratification of ovarian cancers. Here, to decode this complexity, we derived copy number signatures from shallow whole-genome sequencing of 117 high-grade serous ovarian cancer (HGSOC) cases, which were validated on 527 independent cases. We show that HGSOC comprises a continuum of genomes shaped by multiple mutational processes that result in known patterns of genomic aberration. Copy number signature exposures at diagnosis predict both overall survival and the probability of platinum-resistant relapse. Measurement of signature exposures provides a rational framework to choose combination treatments that target multiple mutational processes.

引用

页码：1262 / +

页数：12

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