Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer

被引：197

作者：

Carrot-Zhang, Jian ^{[1
,2
,3
]}

Chambwe, Nyasha ^{[4
]}

Damrauer, Jeffrey S. ^{[5
]}

Knijnenburg, Theo A. ^{[4
]}

Robertson, A. Gordon ^{[6
]}

Yau, Christina ^{[7
,8
]}

Zhou, Wanding ^{[9
]}

Berger, Ashton C. ^{[1
,2
]}

Huang, Kuan-Iin ^{[10
]}

Newberg, Justin Y. ^{[11
]}

Mashl, R. Jay ^{[12
]}

Romanel, Alessandro ^{[13
]}

Sayaman, Rosalyn W. ^{[14
,15
]}

Demichelis, Francesca ^{[13
]}

Felau, Ina ^{[16
]}

Frampton, Garrett M. ^{[11
]}

Han, Seunghun ^{[2
,3
]}

Hoadley, Katherine A. ^{[5
]}

Kemal, Anab ^{[16
]}

Laird, Peter W. ^{[9
]}

Lazar, Alexander J. ^{[17
,18
,19
]}

Le, Xiuning ^{[20
]}

Oak, Ninad ^{[21
,22
]}

Shen, Hui ^{[9
]}

Wong, Christopher K. ^{[23
]}

Zenklusen, Jean C. ^{[16
]}

Ziv, Elad ^{[14
]}

Cherniack, Andrew D. ^{[1
,2
,3
]}

Beroukhim, Rameen ^{[1
,2
,3
,24
,25
]}

机构：

[1] Broad Inst Harvard & MIT, Cambridge, MA 02142 USA

[2] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[3] Harvard Med Sch, Boston, MA 02115 USA

[4] Inst Syst Biol, Seattle, WA 98109 USA

[5] Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA

[6] British Columbia Canc Agcy, Genome Sci Ctr, Vancouver, BC V5Z 4S6, Canada

[7] Buck Inst Res Aging, Novato, CA 94945 USA

[8] Univ Calif San Francisco, Dept Surg, San Francisco, CA 94115 USA

[9] Van Andel Res Inst, Grand Rapids, MI 49503 USA

[10] Icahn Sch Med Mt Sinai, Dept Genet & Genom, New York, NY 10029 USA

[11] Fdn Med, Cambridge, MA 02141 USA

[12] Washington Univ, Dept Med, St Louis, MO 63110 USA

[13] Univ Trento, Dept Cellular Computat & Integrat Biol CIBIO, Via Sommar 9, I-38123 Povo, Trento, Italy

[14] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, Dept Lab Med, San Francisco, CA 94143 USA

[15] City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA 91010 USA

[16] NCI, Bethesda, MD 20892 USA

[17] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA

[18] Univ Texas MD Anderson Canc Ctr, Dept Genom Med, Houston, TX 77030 USA

[19] Univ Texas MD Anderson Canc Ctr, Dept Translat Mol Pathol, Houston, TX 77030 USA

[20] Univ Texas MD Anderson Canc Ctr, Dept Thorac & Head & Neck Med Oncol, Houston, TX 77030 USA

[21] St Jude Childrens Res Hosp, Dept Computat Biol, Memphis, TN 38105 USA

[22] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[23] Univ Calif Santa Cruz, UC Santa Cruz Genom Inst, Santa Cruz, CA 95064 USA

[24] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA

[25] Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02215 USA

来源：

CANCER CELL | 2020年 / 37卷 / 05期

关键词：

GLUTATHIONE-S-TRANSFERASE; PROSTATE-CANCER; RISK; POLYMORPHISMS; ASSOCIATION; PATTERNS; ENVIRONMENT; LANDSCAPE; CARCINOMA; GENOTYPE;

D O I：

10.1016/j.ccell.2020.04.012

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We evaluated ancestry effects on mutation rates, DNA methylation, and mRNA and miRNA expression among 10,678 patients across 33 cancer types from The Cancer Genome Atlas. We demonstrated that cancer subtypes and ancestry-related technical artifacts are important confounders that have been insufficiently accounted for. Once accounted for, ancestry-associated differences spanned all molecular features and hundreds of genes. Biologically significant differences were usually tissue specific but not specific to cancer. However, admixture and pathway analyses suggested some of these differences are causally related to cancer. Specific findings included increased FBXW7 mutations in patients of African origin, decreased VHL and PBRM1 mutations in renal cancer patients of African origin, and decreased immune activity in bladder cancer patients of East Asian origin.

引用

页码：639 / +

页数：22

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