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Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.
Jia, Guochong; Ping, Jie; Guo, Xingyi; Yang, Yaohua; Tao, Ran; Li, Bingshan; Ambs, Stefan; Barnard, Mollie E; Chen, Yu; Garcia-Closas, Montserrat; Gu, Jian; Hu, Jennifer J; Huo, Dezheng; John, Esther M; Li, Christopher I; Li, James L; Nathanson, Katherine L; Nemesure, Barbara; Olopade, Olufunmilayo I; Pal, Tuya; Press, Michael F; Sanderson, Maureen; Sandler, Dale P; Shu, Xiao-Ou; Troester, Melissa A; Yao, Song; Adejumo, Prisca O; Ahearn, Thomas; Brewster, Abenaa M; Hennis, Anselm J M; Makumbi, Timothy; Ndom, Paul; O'Brien, Katie M; Olshan, Andrew F; Oluwasanu, Mojisola M; Reid, Sonya; Butler, Ebonee N; Huang, Maosheng; Ntekim, Atara; Qian, Huijun; Zhang, Haoyu; Ambrosone, Christine B; Cai, Qiuyin; Long, Jirong; Palmer, Julie R; Haiman, Christopher A; Zheng, Wei.
Afiliação
  • Jia G; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Ping J; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Guo X; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Yang Y; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Tao R; Center for Public Health Genomics, Department of Public Health Sciences, UVA Comprehensive Cancer Center, School of Medicine, University of Virginia, Charlottesville, VA, USA.
  • Li B; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Ambs S; Department of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
  • Barnard ME; Laboratory of Human Carcinogenesis, Center of Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Chen Y; Slone Epidemiology Center, Boston University, Boston, MA, USA.
  • Garcia-Closas M; Division of Epidemiology, Department of Population Health, NYU Grossman School of Medicine, New York, NY, USA.
  • Gu J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
  • Hu JJ; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • Huo D; Department of Public Health Sciences, University of Miami School of Medicine, Miami, FL, USA.
  • John EM; Department of Public Health Sciences, University of Chicago, Chicago, IL, USA.
  • Li CI; Departments of Epidemiology & Population Health and of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
  • Li JL; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.
  • Nathanson KL; Department of Public Health Sciences, University of Chicago, Chicago, IL, USA.
  • Nemesure B; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Olopade OI; Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Pal T; Department of Family, Population and Preventive Medicine, Renaissance School of Medicine, Stony Brook University, New York, NY, USA.
  • Press MF; Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
  • Sanderson M; Division of Genetic Medicine, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Sandler DP; Department of Pathology, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
  • Shu XO; Department of Family and Community Medicine, Meharry Medical College, Nashville, TN, USA.
  • Troester MA; Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.
  • Yao S; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Adejumo PO; Department of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Ahearn T; Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Elm & Carlton Streets, Buffalo, NY, USA.
  • Brewster AM; Department of Nursing, College of Medicine, University of Ibadan, Ibadan, Nigeria.
  • Hennis AJM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
  • Makumbi T; Department of Clinical Cancer Prevention, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • Ndom P; George Alleyne Chronic Disease Research Centre, University of the West Indies, Bridgetown, Barbados.
  • O'Brien KM; Department of Family, Population and Preventive Medicine, Stony Brook University, New York, NY, USA.
  • Olshan AF; Department of Surgery, Mulago Hospital, Kampala, Uganda.
  • Oluwasanu MM; Yaounde General Hospital, Yaounde, Cameroon.
  • Reid S; Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.
  • Butler EN; Department of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Huang M; Department of Health Promotion and Education, College of Medicine, University of Ibadan, Ibadan, Nigeria.
  • Ntekim A; Division of Hematology and Oncology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Qian H; Department of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Zhang H; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • Ambrosone CB; Department of Radiation Oncology, College of Medicine, University of Ibadan, Ibadan, Nigeria.
  • Cai Q; Department of Statistics and Operation Research, University of North Carolina, Chapel Hill, NC, USA.
  • Long J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
  • Palmer JR; Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Elm & Carlton Streets, Buffalo, NY, USA.
  • Haiman CA; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Nat Genet ; 56(5): 819-826, 2024 May.
Article em En | MEDLINE | ID: mdl-38741014
ABSTRACT
We performed genome-wide association studies of breast cancer including 18,034 cases and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with breast cancer risk (P < 5 × 10-8), including associations of a low-frequency missense variant rs61751053 in ARHGEF38 with overall breast cancer (odds ratio (OR) = 1.48) and a common variant rs76664032 at chromosome 2q14.2 with triple-negative breast cancer (TNBC) (OR = 1.30). Approximately 15.4% of cases with TNBC carried six risk alleles in three genome-wide association study-identified TNBC risk variants, with an OR of 4.21 (95% confidence interval = 2.66-7.03) compared with those carrying fewer than two risk alleles. A polygenic risk score (PRS) showed an area under the receiver operating characteristic curve of 0.60 for the prediction of breast cancer risk, which outperformed PRS derived using data from females of European ancestry. Our study markedly increases the population diversity in genetic studies for breast cancer and demonstrates the utility of PRS for risk prediction in females of African ancestry.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / População Negra / Estudo de Associação Genômica Ampla Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / População Negra / Estudo de Associação Genômica Ampla Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article