Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

被引：6

作者：

Brignoni, Lucia ^{[1
,2
]}

Cappetta, Monica ^{[1
]}

Colistro, Valentina ^{[3
]}

Sans, Monica ^{[4
]}

Artagaveytia, Nora ^{[2
]}

Bonilla, Carolina ^{[5
,6
]}

Bertoni, Bernardo ^{[1
]}

机构：

[1] Univ Republica, Fac Med, Dept Genet, Montevideo 11800, Uruguay

[2] Univ Republica, Fac Med, Dept Basico Med, Montevideo 11600, Uruguay

[3] Univ Republica, Fac Med, Dept Metodos Cuantitat, Montevideo 11800, Uruguay

[4] Univ Republica, Fac Humanidades & Ciencias, Dept Antropol Biol, Montevideo 11200, Uruguay

[5] Univ Sao Paulo, Fac Med, Dept Prevent Med, BR-01246903 Sao Paulo, Brazil

[6] Univ Bristol, Populat Hlth Sci, Bristol Med Sch, Bristol BS8 2BN, Avon, England

来源：

GENES | 2020年 / 11卷 / 11期

关键词：

breast cancer; population genetics; Latin America; HISPANIC WHITE WOMEN; BODY-MASS INDEX; HEREDITARY BREAST; SUSCEPTIBILITY GENES; BRCA2; MUTATIONS; RISK; ASSOCIATION; POLYMORPHISMS; PREVALENCE; ADMIXTURE;

D O I：

10.3390/genes11111272

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.

引用

页码：1 / 12

页数：12

共 55 条

[1] Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations [J].

Alemar, Barbara ;

Herzog, Josef ;

Oliveira Netto, Cristina Brinckmann ;

Artigalas, Osvaldo ;

Schwartz, Ida Vanessa D. ;

Bittar, Camila Matzenbacher ;

Ashton-Prolla, Patricia ;

Weitzel, Jeffrey N. .

CANCER GENETICS, 2016, 209 (09) :417-422

[2] Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies [J].

Antoniou, A ;

Pharoah, PDP ;

Narod, S ;

Risch, HA ;

Eyfjord, JE ;

Hopper, JL ;

Loman, N ;

Olsson, H ;

Johannsson, O ;

Borg, Å ;

Pasini, B ;

Radice, P ;

Manoukian, S ;

Eccles, DM ;

Tang, N ;

Olah, E ;

Anton-Culver, H ;

Warner, E ;

Lubinski, J ;

Gronwald, J ;

Gorski, B ;

Tulinius, H ;

Thorlacius, S ;

Eerola, H ;

Nevanlinna, H ;

Syrjäkoski, K ;

Kallioniemi, OP ;

Thompson, D ;

Evans, C ;

Peto, J ;

Lalloo, F ;

Evans, DG ;

Easton, DF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1117-1130

[3] Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Spurdle, Amanda B. ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Pooley, Karen A. ;

Schmutzler, Rita K. ;

Versmold, Beatrix ;

Engel, Christoph ;

Meindl, Alfons ;

Arnold, Norbert ;

Hofmann, Wera ;

Sutter, Christian ;

Niederacher, Dieter ;

Deissler, Helmut ;

Caldes, Trinidad ;

Kampjarvi, Kati ;

Nevanlinna, Heli ;

Simard, Jacques ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

Neuhausen, Susan L. ;

Rebbeck, Timothy R. ;

Wagner, Theresa ;

Lynch, Henry T. ;

Isaacs, Claudine ;

Weitzel, Jeffrey ;

Ganz, Patricia A. ;

Daly, Mary B. ;

Tomlinson, Gail ;

Olopade, Olufunmilayo I. ;

Bium, Joanne L. ;

Couch, Fergus J. ;

Peterlongo, Paolo ;

Manoukian, Siranoush ;

Barile, Monica ;

Radice, Paolo ;

Szabo, Csilla I. ;

Pereira, Lutecia H. Mateus ;

Greene, Mark H. ;

Rennert, Gad ;

Leibkowicz, Flavio ;

Barnett-Griness, Ofra ;

Andrulis, Irene L. ;

Ozcelik, Hilmi ;

Gerdes, Anne-Marie ;

Caligo, Maria A. ;

Laitman, Yael ;

Kaufman, Bella ;

Milgrom, Roni ;

Friedman, Eitan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) :937-948

[4] Functional polymorphisms of interleukin-18 gene and risk of breast cancer in a Brazilian population [J].

Back, L. K. D. C. ;

Farias, T. D. J. ;

da Cunha, P. A. ;

Muniz, Y. C. N. ;

Ribeiro, M. C. M. ;

Fernandes, B. L. ;

Fernandes, C. K. ;

de Souza, I. R. .

TISSUE ANTIGENS, 2014, 84 (02) :229-233

[5] iCOGS collection provides a collaborative model FOREWORD [J].

Bahcall, Orli G. .

NATURE GENETICS, 2013, 45 (04) :343-343

[6] Genetic diversity in populations across Latin America: implications for population and medical genetic studies [J].

Belbin, Gillian M. ;

Nieves-Colon, Maria A. ;

Kenny, Eimear E. ;

Moreno-Estrada, Andres ;

Gignoux, Christopher R. .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2018, 53 :98-104

[7]

Berois N, 2017, J CANCER EPIDEMIOL, V2017, DOI 10.1155/2017/6170290

[8] Admixture in Hispanics: Distribution of ancestral population contributions in the continental United States [J].

Bertoni, B ;

Budowle, B ;

Sans, M ;

Barton, SA ;

Chakraborty, R .

HUMAN BIOLOGY, 2003, 75 (01) :1-11

[9] Body-mass index and risk of 22 specific cancers: a population-based cohort study of 5.24 million UK adults [J].

Bhaskaran, Krishnan ;

Douglas, Ian ;

Forbes, Harriet ;

dos-Santos-Silva, Isabel ;

Leon, David A. ;

Smeeth, Liam .

LANCET, 2014, 384 (9945) :755-765

[10] Breast cancer risk and genetic ancestry: a case-control study in Uruguay [J].

Bonilla, Carolina ;

Bertoni, Bernardo ;

Hidalgo, Pedro C. ;

Artagaveytia, Nora ;

Ackermann, Elizabeth ;

Barreto, Isabel ;

Cancela, Paula ;

Cappetta, Monica ;

Egana, Ana ;

Figueiro, Gonzalo ;

Heinzen, Silvina ;

Hooker, Stanley ;

Roman, Estela ;

Sans, Monica ;

Kittles, Rick A. .

BMC WOMENS HEALTH, 2015, 15

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