- Volume 13 Issue 11
Around 1.35 million people of worldwide suffer from breast cancer each year, whereas in India, 1 in every 17 women develops the disease. Mutations of the Breast Cancer 1 (BRCA1) gene account for the majority of breast/ovarian cancer families. The purpose of study was to provide a prevalence of BRCA1 germline mutations in the North-East Indian population. In relation to the personal and family history with the breast cancer, we found mutations in 6.25% and 12.5% respectively. Three mutations, 185DelAG, 1014DelGT and 3889DelAG, were observed in our North-East Indian patients in exons 2 and 11, resulting in truncation of the BRCA1 protein by forming stop codons individually at amino acid positions 39, 303 and 1265. Our results point to a necessity for an extensive mutation screening study of high risk breast cancer cases in our North-East Indian population, which will provide better decisive medical and surgical preventive options.
Breast cancer cases;BRCA1;mutations;North-East India
- Agarwal G, Ramakant P (2008). Breast cancer care in India: The current scenario and the challenges for the future. Breast Cancer, 3, 21-7.
- Bar-Sade RB, Kruglikova A, Modan B, et al (1998). The 185DelAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Human Molecular Genetics, 7, 801-5. https://doi.org/10.1093/hmg/7.5.801
- Brozek I, Cybulska C, Ratajska M, et al (2011). Prevalence of the most frequent BRCA1 mutations in polish population. J Appl Genetics, 52, 325-30. https://doi.org/10.1007/s13353-011-0040-6
- Claus E, Risch N, Thompson WD (1994). Autosomal dominant inheritance of early onset breast cancer. Cancer, 73, 643-51. https://doi.org/10.1002/1097-0142(19940201)73:3<643::AID-CNCR2820730323>3.0.CO;2-5
- Datta K, Biswas J (2009). Influence of dietary habits, physical activity and affluence factors on breast cancer in East India - A case-control Study. Asian Pac J Cancer Prev, 10, 219-22.
- Farooq A, Naveed AK, Azeem Z, Ahmad T (2011). Breast and ovarian cancer risk due to prevalence of BRCA1 and BRCA2 variants in Pakistani population: A Pakistani database report. J Oncol, 2011, 1-8.
- Ford D, Easton DF, Stratton M, et al (1998). Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet, 62, 676-89. https://doi.org/10.1086/301749
- Ghosh SK, Choudhury B, Hansa J, et al (2011). HPV testing for suspected cervical cancer patients from Southern Assam by fast-PCR. Asian Pac J Cancer Prev, 12, 749-51.
- Greenberg RA (2008). Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network. Chromosoma, 117, 305-17. https://doi.org/10.1007/s00412-008-0154-8
- Hall JM, Lee MK, Newman B, et al (1990). Linkage of earlyonset familial breast cancer to chromosome17q21. Sci, 250, 1684-9. https://doi.org/10.1126/science.2270482
- Hedau S, Jain N, Syed A, Husain, Das BC (2004). Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res and Treatment, 88, 177-86. https://doi.org/10.1007/s10549-004-0593-8
- http://research.nhgri.nih.gov/bic/: Breast Cancer informationcore (NHGRI)
- 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
- Lakhotia, Somasundaram (2010). Conformation Sensitive Gel Electrophoresis for detecting BRCA1 mutations. Methods in Molecular Biol, 223, 403-14.
- Liang SX, Pearl M, Liang S, et al (2011). Personal history of breast cancer as a significant risk factor for endometrial serous carcinoma in women aged 55 years old or younger. Int J Cancer, 128, 763-70. https://doi.org/10.1002/ijc.25395
- Liede A, Malik IA, Aziz Z, et al (2009). Contribution of BRCA1 and BRCA2 Mutations to Breast and Ovarian Cancer in Pakistan. Am J Hum Genet, 71, 595-606.
- Mangtani P, Maringe C, Rachet B, Coleman MP, Silva IDS (2010). Cancer mortality in ethnic South Asian migrants in England and Wales (1993-2003): patterns in the overall population and in first and subsequent generations. Br J Cancer, 102, 1438-43. https://doi.org/10.1038/sj.bjc.6605645
- Mathew A, Pandey M, Rajan B (2004). Do younger woman with non-metastatic and non-inflammatory breast carcinoma have poor prognosis? World J Surg Oncol, 2, 2. https://doi.org/10.1186/1477-7819-2-2
- Metcalfe K, Lubinski J, Lynch HT, et al (2010). Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. JNCI, 102, 1874-78. https://doi.org/10.1093/jnci/djq443
- Miki Y, Swensen J, Shattuck-Eidens D, et al (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71. https://doi.org/10.1126/science.7545954
- Narod SA (2011). Screening of women at high risk for breast cancer. Prev Med, 52, 127-30.
- Roy R, Chun J, Powell SN (2012). BRCA1 & BRCA2: different roles in a common pathway of genome protection. Nature Reviews Cancer, 12, 68-78. https://doi.org/10.1038/nrc3181
- Sandhu DS, Sandhu S, Karwasra RK, Marwah S (2010). Profile of breast cancer patients at a tertiary care hospital in North India. Indian J Cancer, 17, 16-22.
- Saxena S, Kaushal M, Sharma J, Zomawia E Kapur S (2010). Genomic alteraions in breast cancer patients from Northeast India using 10K SNP arrays. Genome Biol, 11, 34.
- 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 Genet, 7, 75. https://doi.org/10.1186/1471-2350-7-75
- Saxena S, Rekhi B, Bansal A, et al (2005). Clinico-morphological patterns of breast cancer including family history in a New Delhi hospital, India-A cross-sectional study.World J Surg Oncol, 3, 1-8. https://doi.org/10.1186/1477-7819-3-1
- Thirthagiri E, Lee SY, Kang P, et al (2008). Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res, 10, R59. https://doi.org/10.1186/bcr2118
- Valarmathi MT, Sawhney M, Suryanarayana SV, et al (2004). Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. Hum Mutat, 23, 205.
- Wong NS, Anderson BO, Khoo KS, et al (2009). Management of HER2-positive breast cancer in Asia: consensus statement from Asian Oncology Summit 2009. Lancet Oncol, 10, 1077-85. https://doi.org/10.1016/S1470-2045(09)70230-X
- Wooster R, Weber BL (2010). Breast and ovarian cancer. N Engl J Med 2003, 348, 2339-47.
- Zhang H, Somasundaram K, Peng Y (????). BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene, 16, 1713-1721.
- Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India vol.16, pp.17, 2015, https://doi.org/10.7314/APJCP.2015.16.17.7929
- 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
- Screening for Del 185 AG and 4627C>A BRCA1 Mutations in Breast Cancer Patients from Lahore, Pakistan vol.17, pp.4, 2016, https://doi.org/10.7314/APJCP.2016.17.4.1725
- A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients vol.17, pp.4, 2016, https://doi.org/10.7314/APJCP.2016.17.4.1829
- Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population vol.39, pp.2, 2017, https://doi.org/10.1177/1010428317694303