DOI QR코드

DOI QR Code

BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

  • Cao, Yu-Wen (Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology) ;
  • Fu, Xin-Ge (Department of Pathology, The First Affiliated Hospital, Guangzhou Medical University) ;
  • Wan, Guo-Xing (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine) ;
  • Yu, Shi-Ying (Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology) ;
  • Cui, Xiao-Bin (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine) ;
  • Li, Li (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine) ;
  • Jiang, Jin-Fang (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine) ;
  • Zheng, Yu-Qin (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine) ;
  • Zhang, Wen-Jie (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine) ;
  • Li, Feng (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine)
  • Published : 2014.06.15

Abstract

The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.

References

  1. Buchanan N, Roland KB, Rodriguez JL, et al (2013). Opportunities for public health communication, intervention, and future research on breast cancer in younger women. J Womens Health, 22, 293-8. https://doi.org/10.1089/jwh.2012.4239
  2. Chen W, Zheng R, Zhang S, et al (2013). The incidences and mortalities of major cancers in China, 2009. Chin J Cancer, 32, 106-12. https://doi.org/10.5732/cjc.013.10018
  3. Cheng F, Zhang Q, Liu WH, et al (2010). Clinicopathologic analysis of 2019 breast cancer patients with Han and Uygur nationalities in Xinjiang areas. Cancer Res Prev Treat, 7, 1312-4.
  4. Colleoni M, Rotmensz N, Robertson C, et al (2002). Very young women (<35 years) with operable breast cancer: features of disease at presentation. Ann Oncol, 13, 273-9.
  5. Couch FJ (2004). Genetic epidemiology of BRCA1. Cancer Biol Ther, 3, 509-14. https://doi.org/10.4161/cbt.3.6.840
  6. Cui J, Hopper JL (2000). Why are the majority of hereditary cases of early-onset breast cancer sporadic? A simulation study. Cancer Epidemiol Biomarkers Prev, 9, 805-12.
  7. Ferlay J, Bray F, Pisani P, et al (2004). GLOBOCAN 2002: Cancer Incidence, Mortality and Prevalence Worldwide. IARC Cancer Base No. 5 version 2.0, IARC Press, Lyon.
  8. Hall MJ, Reid JE, Burbdge LA, et al (2009). BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast ovarian cancer. Cancer, 115, 2222-33. https://doi.org/10.1002/cncr.24200
  9. Fitzgerald MG, Macdonald DJ, Krainer M, et al (1996). Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med, 334, 143-9. https://doi.org/10.1056/NEJM199601183340302
  10. Ford D1, Easton DF, Bishop DT, Narod SA, Goldgar DE (1994). Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet, 343, 692-5. https://doi.org/10.1016/S0140-6736(94)91578-4
  11. Friedman LS, Ostermeyer EA, Szabo CI, et al (1994). Confirmation of BRCAl by analysis of gremlin mutations linked to breast and ovarian cancer in ten families. Nature Genetics, 8, 399-404. https://doi.org/10.1038/ng1294-399
  12. Hansa J, Kannan R, Ghosh SK (2012). Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India. Asian Pac J Cancer Prev, 13, 5871-4. https://doi.org/10.7314/APJCP.2012.13.11.5871
  13. Huang J, Tang LL, Hu Z, et al (2008). BRCA1 and BRCA2 gene mutations of familial breast cancer and early-onset breast cancer from Hunan province in China. Zhongguo Ai Zheng Za Zhi, 18, 566-72.
  14. Laraqui A, Uhrhammer N, Lahlou-amine I, et al (2013). Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. Int J Med Sci, 10, 60-7. https://doi.org/10.7150/ijms.5014
  15. Li SW, Lu Y, Yang XY, et al (2012). Analysis of clinical characteristics and related factors of breast cancer patients with different nationalities in Xinjiang areas. J Xinjiang Med University, 35, 895-8.
  16. Li WF, Hu Z, Rao NY, et al (2008). The prevalence of BRCA1 and BRCA2 germline mutations in high risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat, 110, 99-109. https://doi.org/10.1007/s10549-007-9708-3
  17. Mohammad Mahdi Kooshyar, Mohammadreza Nassiri, Morteza Mahdavi, et al (2013). Identification of germline BRCA1 mutations among breast cancer families in northeastern Iran. Asian Pac J Cancer Prev, 14, 4339-45. https://doi.org/10.7314/APJCP.2013.14.7.4339
  18. Meindl A (2002). Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer, 97, 472-80. https://doi.org/10.1002/ijc.1626
  19. Meng J, Shi YR, Niu RF, et al (2009). Relationship between mutation of BRCA1 and susceptibility to early onset of breast cancer. Zhonghua Yi Xue Za Zhi, 89, 79-82.
  20. Miki Y, Swensen J, Shattuck-Eidens D, et a1 (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCAl. Science, 266, 66-71. https://doi.org/10.1126/science.7545954
  21. Musoplino A, Bella MA, Bortesi B, et al (2007). BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. Breast, 16, 280-92. https://doi.org/10.1016/j.breast.2006.12.003
  22. Ou JH , Wu T, Sijmons R, et al (2013). Prevalence of BRCA1 and BRCA2 germline mutations in breast cancer women of multiple ethnic region in Northwest China. J Breast Cancer, 16, 50-4. https://doi.org/10.4048/jbc.2013.16.1.50
  23. Parkin DM (2004). International variation. Oncogene, 23, 6329-40. https://doi.org/10.1038/sj.onc.1207726
  24. Suter NM, Ray RM, Hu YW, et al (2004). BRCA1 and BRCA2 mutations in women from Shanghai China. Cancer Epidemiol Biomarkers Prev, 13, 181-9. https://doi.org/10.1158/1055-9965.EPI-03-0196
  25. Tang NL, Pang CP, Yeo W, et al (1999). Prevalence of mutations in the BRCA1 gene among Chinese patients with breast cancer. J Natl Cancer Inst, 91, 882-5. https://doi.org/10.1093/jnci/91.10.882
  26. Thirthagiri E, Lee SY, Kang P, et al (2008). Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian ountry (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res, 10, 59.
  27. Tohg T, Kang P, Lee SS, et al (2008). BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history. PLoS One, 3, 2024. https://doi.org/10.1371/journal.pone.0002024
  28. Uhrhammer N, Abdelouahab A, Laffarge l, et al (2008). BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. Int J Med Sci, 5, 197-202.
  29. Wooster R, Weber BL (2003). Genomic medicine: breast and ovarian cancer. N Engl J Med, 348, 2339-47. https://doi.org/10.1056/NEJMra012284
  30. Yassaee VR, Zeinali S, Harirchi I, et al (2002). Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res, 4, 6. https://doi.org/10.1186/bcr519
  31. Cao WM, Wang XJ, Li JC (2013). Hereditary breast cancer in the han Chinese population. J Epidemiol, 23, 75-84.

Cited by

  1. Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers vol.16, pp.13, 2015, https://doi.org/10.7314/APJCP.2015.16.13.5211
  2. BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis vol.16, pp.3, 2015, https://doi.org/10.7314/APJCP.2015.16.3.1219
  3. Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women vol.21, pp.2, 2018, https://doi.org/10.4048/jbc.2018.21.2.165