Your browser doesn't support javascript.
loading
Evaluating breast cancer predisposition genes in women of African ancestry.
Díaz-Zabala, Héctor; Guo, Xingyi; Ping, Jie; Wen, Wanqing; Shu, Xiao-Ou; Long, Jirong; Lipworth, Loren; Li, Bingshan; Fadden, Mary Kay; Pal, Tuya; Blot, William J; Cai, Qiuyin; Haiman, Christopher A; Palmer, Julie R; Sanderson, Maureen; Zheng, Wei.
Afiliação
  • Díaz-Zabala H; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Guo X; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Ping J; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Wen W; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Shu XO; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Long J; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Lipworth L; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Li B; Department of Molecular Physiology & Biophysics, Vanderbilt University School of Medicine, Nashville, TN.
  • Fadden MK; Department of Family & Community Medicine, Meharry Medical College, Nashville, TN.
  • Pal T; Division of Genetic Medicine, Department of Medicine, Vanderbilt Cancer Health Disparities, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Blot WJ; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Cai Q; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN.
  • Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA.
  • Palmer JR; Department of Medicine, Boston University School of Medicine, Slone Epidemiology Center, Boston University, Boston, MA.
  • Sanderson M; Department of Family & Community Medicine, Meharry Medical College, Nashville, TN.
  • Zheng W; Vanderbilt Epidemiology Center, Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN. Electronic address: wei.zheng@vanderbilt.edu.
Genet Med ; 24(7): 1468-1475, 2022 07.
Article em En | MEDLINE | ID: mdl-35396981
PURPOSE: Studies conducted primarily among European ancestry women reported 12 breast cancer predisposition genes. However, etiologic roles of these genes in breast cancer among African ancestry women have been less well-investigated. METHODS: We conducted a case-control study in African American women, which included 1117 breast cancer cases and 2169 cancer-free controls, and a pooled analysis, which included 7096 cases and 8040 controls of African descent. Odds ratios of associations with breast cancer risk were estimated. RESULTS: Using sequence data, we identified 61 pathogenic variants in 12 breast cancer predisposition genes, including 11 pathogenic variants not yet reported in previous studies. Pooled analysis showed statistically significant associations of breast cancer risk with pathogenic variants in BRCA1, BRCA2, PALB2, ATM, CHEK2, TP53, NF1, RAD51C, and RAD51D (all P < .05). The associations with BRCA1, PALB2, and RAD51D were stronger for estrogen receptor (ER)-negative than for ER-positive breast cancer (P heterogeneity < .05), whereas the association with CHEK2 was stronger for ER-positive than for ER-negative breast cancer. CONCLUSION: Our study confirmed previously identified associations of breast cancer risk with BRCA1, BRCA2, PALB2, ATM, TP53, NF1, and CHEK2 and provided new evidence to extend the associations of breast cancer risk with RAD51C and RAD51D, which was identified previously in European ancestry populations, to African ancestry women.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Mama Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Mama Idioma: En Ano de publicação: 2022 Tipo de documento: Article