Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations

被引：94

作者：

Carrot-Zhang, Jian ^{[1
,2
,3
,4
]}

Soca-Chafre, Giovanny ^{[5
]}

Patterson, Nick ^{[2
,3
,4
]}

Thorner, Aaron R. ^{[1
]}

Nag, Anwesha ^{[1
]}

Watson, Jacqueline ^{[1
,2
]}

Genovese, Giulio ^{[2
,3
,4
]}

Rodriguez, July ^{[6
]}

Gelbard, Maya K. ^{[1
]}

Corrales-Rodriguez, Luis ^{[7
,8
]}

Mitsuishi, Yoichiro ^{[9
]}

Ha, Gavin ^{[10
]}

Campbell, Joshua D. ^{[11
]}

Oxnard, Geoffrey R. ^{[1
]}

Arrieta, Oscar ^{[5
,12
]}

Cardona, Andres F. ^{[6
,13
]}

Gusev, Alexander ^{[1
,2
,14
]}

Meyerson, Matthew ^{[1
,2
,3
,4
]}

机构：

[1] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA

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

[3] Harvard Med Sch, Dept Genet, Boston, MA USA

[4] Harvard Med Sch, Dept Med, Boston, MA USA

[5] Inst Nacl Cancerol, Personalized Med Lab, Mexico City, DF, Mexico

[6] Fdn Clin & Appl Canc Res FICMAC, Bogota, Colombia

[7] Hosp San Juan Dios, Med Oncol, San Jose, Costa Rica

[8] Ctr Invest & Manejo Canc CIMCA, San Jose, Costa Rica

[9] Juntendo Univ, Div Resp Med, Grad Sch Med, Bunkyo Ku, Tokyo, Japan

[10] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA

[11] Boston Univ, Div Computat Biomed, Dept Med, Sch Med, Boston, MA USA

[12] Inst Nacl Cancerol, Thorac Oncol Unit, Mexico City, DF, Mexico

[13] Clin & Translat Oncol Grp, Clin Country, Bogota, Colombia

[14] Brigham & Womens Hosp, Div Genet, Boston, MA USA

来源：

CANCER DISCOVERY | 2021年 / 11卷 / 03期

关键词：

WHOLE-GENOME ASSOCIATION; ADENOCARCINOMA HISTOLOGY; READ ALIGNMENT; EGFR MUTATIONS; PREVALENCE; ADMIXTURE; OUTCOMES; MARKERS; BURDEN; ACCESS;

D O I：

10.1158/2159-8290.CD-20-1165

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Inherited lung cancer risk, particularly in nonsmokers, is poorly understood. Genomic and ancestry analysis of 1,153 lung cancers from Latin America revealed striking associations between Native American ancestry and their somatic landscape, including tumor mutational burden, and specific driver mutations in EGFR, KRAS, and STK11. A local Native American ancestry risk score was more strongly correlated with EGFR mutation frequency compared with global ancestry correlation, suggesting that germline genetics (rather than environmental exposure) underlie these disparities. SIGNIFICANCE: The frequency of somatic EGFR and KRAS mutations in lung cancer varies by ethnicity, but we do not understand why. Our study suggests that the variation in EGFR and KRAS mutation frequency is associated with genetic ancestry and suggests further studies to identify germline alleles that underpin this association.

引用

页码：591 / 598

页数：8

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