Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.
Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.
复制标题
秘鲁妇女乳腺癌特异性6q25变异与乳腺癌亚型之间的关联
DOI：
10.1158/1055-9965.epi-22-0069
复制
发表时间：
2022-08-02
影响因子：
3.8
通讯作者：
Fejerman, Laura
中科院分区：
文献类型：
--
作者：
Zavala, Valentina A.;Casavilca-Zambrano, Sandro;Navarro-Vasquez, Jeannie;Castaneda, Carlos A.;Valencia, Guillermo;Morante, Zaida;Calderon, Monica;Abugattas, Julio E.;Gomez, Henry;Fuentes, Hugo A.;Liendo-Picoaga, Ruddy;Cotrina, Jose M.;Monge, Claudia;Neciosup, Silvia P.;Huntsman, Scott;Hu, Donglei;Sanchez, Sixto E.;Williams, Michelle A.;Nunez-Marrero, Angel;Godoy, Lenin;Hechmer, Aaron;Olshen, Adam B.;Dutil, Julie;Ziv, Elad;Zabaleta, Jovanny;Gelaye, Bizu;Vasquez, Jule;Galvez-Nino, Marco;Enriquez-Vera, Daniel;Vidaurre, Tatiana;Fejerman, Laura
在美国，与非裔美国人/黑人或非西班牙裔白人妇女相比，西班牙裔/拉丁裔（H/L）妇女的乳腺癌发病率较低。据报道，在雌激素受体1基因附近发现了一种美洲原住民乳腺癌保护种系变异（rs140068132）。本研究测试了rs140068132和其他6q25区域多态性与高美洲原住民血统H/ l亚型特异性乳腺癌风险的关系。获得了5,094名患有（1,755名）乳腺癌和未患（3,337名）乳腺癌的秘鲁妇女的基因型。使用逻辑回归模型和条件分析，包括该地区的其他风险相关多态性，测试了基因型与保护性变异的总体风险和亚型特异性风险之间的关系。我们重复了rs140068132与乳腺癌总体风险之间的关联[优势比（OR）， 0.53；95%可信区间（CI）， 0.47-0.59)，以及发生激素受体阴性（HR -）与HR+疾病的几率较低（OR, 0.77; 95% CI, 0.61-0.97）。包括HER2在内的模型显示出进一步的异质性，与HR+HER2 -相比，HR+HER2+ (OR, 0.68; 95% CI, 0.51-0.92)、HR - HER2+ (OR, 0.63; 95% CI, 0.44-0.90)和HR - HER2 - (OR, 0.77; 95% CI, 0.56-1.05)的赔率降低。纳入其他风险相关变异并没有改变这些观察结果。rs140068132多态性与秘鲁人乳腺癌风险降低有关，并且与6q25区域的其他乳腺癌相关变异相比，对HR -和HER2+疾病具有更强的保护作用。这些结果可以为功能分析提供信息，以了解rs140068132-G以亚型特异性方式降低乳腺癌发展风险的机制。它们还说明了在基因研究中纳入不同个体的重要性。
Breast cancer incidence in the United States is lower in Hispanic/Latina (H/L) compared with African American/Black or Non-Hispanic White women. An Indigenous American breast cancer–protective germline variant (rs140068132) has been reported near the estrogen receptor 1 gene. This study tests the association of rs140068132 and other polymorphisms in the 6q25 region with subtype-specific breast cancer risk in H/Ls of high Indigenous American ancestry. Genotypes were obtained for 5,094 Peruvian women with (1,755) and without (3,337) breast cancer. Associations between genotype and overall and subtype-specific risk for the protective variant were tested using logistic regression models and conditional analyses, including other risk-associated polymorphisms in the region. We replicated the reported association between rs140068132 and breast cancer risk overall [odds ratio (OR), 0.53; 95% confidence interval (CI), 0.47–0.59], as well as the lower odds of developing hormone receptor negative (HR−) versus HR+ disease (OR, 0.77; 95% CI, 0.61–0.97). Models, including HER2, showed further heterogeneity with reduced odds for HR+HER2+ (OR, 0.68; 95% CI, 0.51–0.92), HR−HER2+ (OR, 0.63; 95% CI, 0.44–0.90) and HR−HER2− (OR, 0.77; 95% CI, 0.56–1.05) compared with HR+HER2−. Inclusion of other risk-associated variants did not change these observations. The rs140068132 polymorphism is associated with decreased risk of breast cancer in Peruvians and is more protective against HR− and HER2+ diseases independently of other breast cancer-associated variants in the 6q25 region. These results could inform functional analyses to understand the mechanism by which rs140068132-G reduces risk of breast cancer development in a subtype-specific manner. They also illustrate the importance of including diverse individuals in genetic studies.
乳腺癌协会联盟（BCAC）中亚洲和欧洲基因组广泛关联研究的6q25乳腺癌的比较。
影响因子：
3.7
作者：
Hein R;Maranian M;Hopper JL;Kapuscinski MK;Southey MC;Park DJ;Schmidt MK;Broeks A;Hogervorst FB;Bueno-de-Mesquita HB;Muir KR;Lophatananon A;Rattanamongkongul S;Puttawibul P;Fasching PA;Hein A;Ekici AB;Beckmann MW;Fletcher O;Johnson N;dos Santos Silva I;Peto J;Sawyer E;Tomlinson I;Kerin M;Miller N;Marmee F;Schneeweiss A;Sohn C;Burwinkel B;Guénel P;Cordina-Duverger E;Menegaux F;Truong T;Bojesen SE;Nordestgaard BG;Flyger H;Milne RL;Perez JI;Zamora MP;Benítez J;Anton-Culver H;Ziogas A;Bernstein L;Clarke CA;Brenner H;Müller H;Arndt V;Stegmaier C;Rahman N;Seal S;Turnbull C;Renwick A;Meindl A;Schott S;Bartram CR;Schmutzler RK;Brauch H;Hamann U;Ko YD;GENICA Network;Wang-Gohrke S;Dörk T;Schürmann P;Karstens JH;Hillemanns P;Nevanlinna H;Heikkinen T;Aittomäki K;Blomqvist C;Bogdanova NV;Zalutsky IV;Antonenkova NN;Bermisheva M;Prokovieva D;Farahtdinova A;Khusnutdinova E;Lindblom A;Margolin S;Mannermaa A;Kataja V;Kosma VM;Hartikainen J;Chen X;Beesley J;Kconfab Investigators;AOCS Group;Lambrechts D;Zhao H;Neven P;Wildiers H;Nickels S;Flesch-Janys D;Radice P;Peterlongo P;Manoukian S;Barile M;Couch FJ;Olson JE;Wang X;Fredericksen Z;Giles GG;Baglietto L;McLean CA;Severi G;Offit K;Robson M;Gaudet MM;Vijai J;Alnæs GG;Kristensen V;Børresen-Dale AL;John EM;Miron A;Winqvist R;Pylkäs K;Jukkola-Vuorinen A;Grip M;Andrulis IL;Knight JA;Glendon G;Mulligan AM;Figueroa JD;García-Closas M;Lissowska J;Sherman ME;Hooning M;Martens JW;Seynaeve C;Collée M;Hall P;Humpreys K;Czene K;Liu J;Cox A;Brock IW;Cross SS;Reed MW;Ahmed S;Ghoussaini M;Pharoah PD;Kang D;Yoo KY;Noh DY;Jakubowska A;Jaworska K;Durda K;Złowocka E;Sangrajrang S;Gaborieau V;Brennan P;McKay J;Shen CY;Yu JC;Hsu HM;Hou MF;Orr N;Schoemaker M;Ashworth A;Swerdlow A;Trentham-Dietz A;Newcomb PA;Titus L;Egan KM;Chenevix-Trench G;Antoniou AC;Humphreys MK;Morrison J;Chang-Claude J;Easton DF;Dunning AM
通讯作者：
Dunning AM
6q25.1功能性遗传变异与中国人群乳腺癌风险评估
DOI：
10.1186/s13058-014-0422-x
发表时间：
2014-08-14
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Wang Y;He Y;Qin Z;Jiang Y;Jin G;Ma H;Dai J;Chen J;Hu Z;Guan X;Shen H
通讯作者：
Shen H