Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India

  • Chakraborty, Abhijit (Dept. of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute) ;
  • Banerjee, Debolina (Dept. of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute) ;
  • Basak, Jayasri (Dept. of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute) ;
  • Mukhopadhyay, Ashis (Dept. of Oncology, Netaji Subhas Chandra Bose Cancer Research Institute)
  • Published : 2015.12.03
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Abstract

Background: The incidence of breast cancer in India is on the rise and is rapidly becoming the number one cancer in females, pushing the cervical cancer to the second position. Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2. Alterations in these genes have been reported in different populations, some of which are population-specific mutations showing founder effects. Two specific mutations in the BRCA1 (185delAG) and BRCA2 (6174delT) genes have been reported to be of high prevalence in different populations. The aim of this study was to estimate the carrier frequency of 185delAG and 6174delT mutations in eastern Indian breast cancer patients. Materials and Methods: We selected 231 histologically confirmed breast cancer patients from our tertiary cancer care center in eastern India. Family history was obtained by interview or a self-reported questionnaire. The presence of the mutation was investigated by allele specific duplex/multiplex-PCR on genomic DNA extracted from peripheral blood. Results: A total of 231 patients (age range: 26-77 years), 130 with a family history and 101 without were screened. The two founder mutations 185delAG in BRCA1 and 6174delT in BRCA2 were not found in any of the subjects. This was confirmed by molecular analysis. Conclusions: Our findings suggest that these BRCA mutations may not have a strong recurrent effect on breast cancer among the eastern Indian population. The contribution of these founder mutations to breast cancer incidence is probably low and could be limited to specific subgroups. This may be particularly useful in establishing further pre-screening strategies.

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References

  1. Antoniou A, Pharoah PD, Narod S, et al (2003). 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. Am J Hum Genet, 72, 1117-30. https://doi.org/10.1086/375033
  2. Babita, Kumar N, Singh M, Malik JS, Kalhan M (2014). Breast feeding reduces breast cancer risk: a case-control study in north India. Int J Prev Med, 5, 791-95.
  3. Chakraborty A, Mukhopadhyay A, Bhattacharyya D, et al (2013). Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India. Fam Cancer, 12, 489-95. https://doi.org/10.1007/s10689-012-9590-y
  4. Chakraborty A, Katarkar A, Chaudhuri K, et al (2013). Detection of a novel mutation in exon 20 of the BRCA1 gene, Cell Mol Biol Lett, 18, 631-8.
  5. Claus EB, Risch N, Thompson WD (1991). Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet, 48, 232-42.
  6. Collaborative Group on Hormonal Factors in Breast Cancer (2012). Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies. Lancet Oncol, 13, 1141-51. https://doi.org/10.1016/S1470-2045(12)70425-4
  7. Easton DF, Ford D, Bishop DT (1995). Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet, 56, 265-71. https://doi.org/10.1002/ajmg.1320560305
  8. Ebrahimi M, Vahdaninia M, Montazeri A (2002). Risk factors for breast cancer in Iran: a case-control study. Breast Cancer Res, 4, R10. https://doi.org/10.1186/bcr454
  9. Ewertz M, Duffy SW, Adami HO, et al (1990). Age at first birth, parity and risk of breast cancer: a meta-analysis of 8 studies from the Nordic countries. Int J Cancer, 46, 597-3. https://doi.org/10.1002/ijc.2910460408
  10. Fodor FH, Weston A, Bleiweiss IJ, et al (1998). Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in ashkenazi jewish breast cancer patients. Am J Hum Genet, 63, 45-51. https://doi.org/10.1086/301903
  11. Gajalakshmi V, Mathew A, Brennan P, et al (2009). Breast feeding and breast cancer risk in India: A multicenter casecontrol study. Int J Cancer, 125, 662-5. https://doi.org/10.1002/ijc.24429
  12. Haeyoung K and Doo HC (2013). Distribution of BRCA1 and BRCA2 mutations in asian patients with breast cancer. J Breast Cancer. 16, 357-65. https://doi.org/10.4048/jbc.2013.16.4.357
  13. 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
  14. Haytural H, Yalcinkaya N, Akan G, et al (2013). Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer. Asian Pac J Cancer Prev, 14, 3229-35. https://doi.org/10.7314/APJCP.2013.14.5.3229
  15. Hedau S, Jain N, Husain SA, et al (2004). Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Br Can Res and Treat, 88, 177-86. https://doi.org/10.1007/s10549-004-0593-8
  16. King MC, Marks JH, Mandell JB (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302, 643-6. https://doi.org/10.1126/science.1088759
  17. Kumar BV, Lakhotia S, Ankathil R, et al (2002). Germline BRCA1 mutation analysis in Indian Breast/Ovarian cancer families. Cancer Biol Ther, 1, 18-21. https://doi.org/10.4161/cbt.1.1.33
  18. Lambe M, Hsieh CC, Chan HW, et al (1996). Parity, age at first and last birth, and risk of breast cancer: a population-based study in Sweden. Breast Cancer Res Treat, 38, 305-11. https://doi.org/10.1007/BF01806150
  19. Levy-Lahad E, Catane R, Eisenberg S, et al (1997). Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet, 60, 1059-67.
  20. Neuhausen SL, Mazoyer S, Friedman L, et al (1996). Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study. Am J Hum Genet, 58, 271-80.
  21. Osborne C, Ostir GV, Du X, Peek MK, Goodwin JS (2005). The influence of marital status on the stage at diagnosis, treatment, and survival of older women with breast cancer. Breast Cancer Res Treat, 93, 41-7. https://doi.org/10.1007/s10549-005-3702-4
  22. Roa BB, Boyd AA, Richards CS (1996). Ashkenazi jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet, 14, 185-7. https://doi.org/10.1038/ng1096-185
  23. Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM (2001). Cancer-predisposing mutations within the RING domain of BRCA1: Loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. Proc Natl Acad Sci U S A, 98, 5134-9. https://doi.org/10.1073/pnas.081068398
  24. Saxena S, Chakraborty A, Kaushal M, et al (2006). Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Gen, 4, 75-87.
  25. Sharma S, Rajaram S, Sharma T, et al. (2014) Role of BRCA1 and BRCA2 gene mutations in epithelial ovarian cancer in Indian population: a pilot study. Int J Biochem Mol Biol, 5, 1-10.
  26. Somasundaram K (2010). BRCA1 and BRCA1 genes and inherited breast and/or ovarian cancer: benefits of genetic testing. Indian J Surg Oncol, 1, 245-9. https://doi.org/10.1007/s13193-011-0049-7
  27. Thakur S, Phadke SR (2005). Familial breast cancer: Genetics and counseling. Indian J Surgery, 67, 297-301.
  28. Ulusoy C, Kepenekci I, Kose K, Aydintug S, Cam R (2010). Applicability of the Gail model for breast cancer risk assessment in Turkish female population and evaluation of breast feeding as a risk factor. Breast Cancer Res Treat, 120, 419-24. https://doi.org/10.1007/s10549-009-0541-8

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