- Volume 14 Issue 6
DOI QR Code
Hereditary Genes and SNPs Associated with Breast Cancer
- Mahdi, Kooshyar Mohammad (Department of Hematology-Oncology, Mashhad University of Medical Sciences) ;
- Nassiri, Mohammad Reza (Department of Animal Science, Ferdowsi University of Mashhad) ;
- Nasiri, Khadijeh (Department of Animal Science, Ferdowsi University of Mashhad)
- Published : 2013.06.30
Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.
- Pal T, Permuth-Wey J, Holtje T, Sutphen R (2004). BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. Cancer Epidemiol Biomarkers & Prev, 1, 1794-9.
- Robson M, Offit K (2007). Clinical practice. Management of an inherited predisposition to breast cancer. N Engl J Med, 357, 154-62. https://doi.org/10.1056/NEJMcp071286
- Roodi N, Bailey LR, Kao WY, et al (1995). Estrogen receptor gene analysis in estrogen receptor-positive and re receptornegative primary breast cancer. J Natl Cancer Inst, 87, 446-51. https://doi.org/10.1093/jnci/87.6.446
- Sachidanandam R, Weissman D, Schmidt SC, et al (2001). A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature, 409, 928-33. https://doi.org/10.1038/35057149
- Schiff R, Massarweh SA, Shou J, et al (2004). Crosstalk between estrogen receptor and growth factor pathways as a molecular target for overcoming endocrine resistance. Clin Cancer Res, 10, 331-6. https://doi.org/10.1158/1078-0432.CCR-031212
- Stacey SN, Manolescu A, Sulem P, et al (2007). Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer. Nature Genetics, 39, 865-9. https://doi.org/10.1038/ng2064
- The CHEK2 Breast Cancer Case-Control Consortium. (2004) CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet, 74, 1175-82. https://doi.org/10.1086/421251
- Thomas G, Jacobs KB, Kraft P, et al (2009). A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet, 41, 579-84. https://doi.org/10.1038/ng.353
- Thompson D, Duedal S, Kirner J, et al (2005). Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst, 97, 813-22. https://doi.org/10.1093/jnci/dji141
- Thompson D, Seal S, Schutte M, et al (2006). A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer Epidemiol Biomarkers Prev, 15, 2542-5. https://doi.org/10.1158/1055-9965.EPI-06-0687
- Thussbas C, Nahrig J, Streit S, et al (2006). FGFR4 Arg388 allele is associated with resistance to adjuvant therapy in primary breast cancer. J Clin Oncol, 24, 3747-55. https://doi.org/10.1200/JCO.2005.04.8587
- Valarmathi M, Agarwal A, Suryanarayana S, Shukla NK, Satya N (2002). BRCA1 germline mutations in Indian familial breast cancer. Human Mutation, 1, 98-9.
- Yang J, Ren Y, Wang L, et al (2010). PTEN mutation spectrum in breast cancers and breast hyperplasia. J Cancer Res and Clin Oncol, 136, 1303-11. https://doi.org/10.1007/s00432-010-0781-3
- Zabetian HM, Nasiri MR, Aslaminejad AA, et al (2012). Measurement of human progesterone receptor gene expression in normal and breast cancer tissue using real-time PCR technique. Iran J Obstetric, Gynecol and Infertility, 15, 48-55.
- Zheng W, Long J, Gao YT, et al (2009). Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nature Genetics, 41, 324-8. https://doi.org/10.1038/ng.318
- Zhang L, Gu L, Qian B, et al (2009). Association of genetic polymorphisms of ER-a and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women. Breast Cancer Res Treat, 114, 327-38. https://doi.org/10.1007/s10549-008-9998-0
- Fiuji H, Nassiri MR, Ghovvati S, Homaee F, Saleh Moghadam M (2011). Inc, assignee. Biotechnology Institute of Mashhad. Design and production identification kit of mutation 185delAG of BRCA1 gene effective in breast cancer using the ARMS - PCR method. Iran patent 71365. Sep 5.
- Fiuji H, Nassiri MR, Ghovvati S, et al (2011). Biotechnology Institute of Mashhad. Design and production identification kit of mutation 5382insC of BRCA1 gene effective in breast cancer using the ARMS - PCR method. Iran patent.71367. Sep 5.
- Ford D, Easton DF, Stratton M, et al (1998). Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet, 62, 676-89. https://doi.org/10.1086/301749
- Fu Yi-Ping, Edvardsen H, Kaushiva A, et al (2010). RNesOeaTrchCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations. Molecular Cancer, 9, 113. https://doi.org/10.1186/1476-4598-9-113
- Gang Li, Gertraud WR, Ralf L, et al (2002). Conditional loss of PTEN leads to precocious development and neoplasia in the mammary gland. Development, 129, 4159-70.
- Garcia-Closas M, Hall P, Nevanlinna H, et al (2008). Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet, 4, 1000054. https://doi.org/10.1371/journal.pgen.1000054
Hosseini A (2011). Comparative study of the expression of estrogen receptor
$\alpha$(ER- $\alpha$) and estrogen receptor $\beta$(ER- $\beta$) in human and canine breast cancer tissue using Real time-PCR technique. Mashhad. Ferdowsi University of Mashhad.
- Johnson N, Fletcher O, Palles C, et al (2007). Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer Susceptibility. Human Molecular Genetics, 16, 1051-7. https://doi.org/10.1093/hmg/ddm050
- Kalemi TG, Lambropoulos AF, Gueorguiev M, et al (2005). The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece. Cancer Lett, 222, 57-65. https://doi.org/10.1016/j.canlet.2004.11.025
- Karen AP, Catherine SH, Paula LS, et al (2006). Association of the progesterone receptor gene with breast cancer risk: A Single-Nucleotide Polymorphism tagging approach. Cancer Epidemiol Biomarkers Prev, 15, 675-82. https://doi.org/10.1158/1055-9965.EPI-05-0679
- Liede A, Jack E, Hegele RA, Narod SA (2002). A BRCA1 mutation in native North American families. Human Mutation, 1, 122-5.
- Long J, Cai Q, Sung H, et al (2012). Genome-wide association study in East Asians identifies susceptibility loci for breast cancer. Plos Genetics, 8, 1002532. https://doi.org/10.1371/journal.pgen.1002532
- Mendel L (2012). BRCA Cancer Mutations (Selected) 23 and Me Established Research Report.
- Milne RL, Antoniou AC (2011). Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Eueopean society medical ontology. Ann Oncol, 22, 11-7. https://doi.org/10.1093/annonc/mdq660
- Nechushtan H, Hamburger T, Mendelson S, et al (2009). Effects of the single nucleotide polymorphism at MDM2 309 on breast cancer patients with/without BRCA1/2 mutations. BMC Cancer, 9, 60. https://doi.org/10.1186/1471-2407-9-60
- Ahn SH, Son BH, Yoon KS, et al (2007). BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. Cancer Letters, 245, 90-5. https://doi.org/10.1016/j.canlet.2005.12.031
- Antoniou AC, Wang X, Fredericksen ZS, et al (2010). A genomewide association study identifies a 19p13 locus that modifies the risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet, 42, 885-92. https://doi.org/10.1038/ng.669
- Antonis C, Sinilnikova OM, McGueeog L, et al (2007). RAD51 135GrC modifies breast cancer risk among BRCA2. mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet, 81, 1186-200. https://doi.org/10.1086/522611
- Barnes DM, Camplejohn RS (1996). P53, apoptosis, and breast cancer. J Mammary Gland Biol Neoplasia, 1, 163-75. https://doi.org/10.1007/BF02013640
- Birch JM, Alston RD, McNally RJ, et al (2001). Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene, 20, 4621-8. https://doi.org/10.1038/sj.onc.1204621
- Black D, Bogomolniy F, Robson ME, et al (2005). Evaluation of germline PTEN mutations in endometrial cancer patients. Gynecol Oncol, 96, 21-4. https://doi.org/10.1016/j.ygyno.2004.09.024
- Cai Q, Wen W, Qu S, et al (2011). Ancestry importance in women of Chinese, Japanese, and European cancer susceptibility locus at 6q25.1 generalize its replication and functional genomic analyses of the breast. Cancer Res, 71, 1344-55. https://doi.org/10.1158/0008-5472.CAN-10-2733
- Chakravarti A (1999). Population genetics-making sense out of sequence. Nat Genet, 21, 56-60. https://doi.org/10.1038/4482
- Coley HM (2008). Mechanisms and strategies to overcome chemotherapy resistance in metastatic breast cancer. Cancer Treat Rev, 34, 378-90. https://doi.org/10.1016/j.ctrv.2008.01.007
- Collaborative Group on Hormonal Factors in Breast Cancer (1996). Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53,297 women with breast cancer and 100,239 women without breast cancer from 54 epidemiological studies. Lancet, 347, 1713-27. https://doi.org/10.1016/S0140-6736(96)90806-5
- Cox A, Dunning AM, Garcia-Closas M, et al (2007). Common coding variant in CASP8 is associated with breast cancer risk. Nature Genetics, 39, 352-8. https://doi.org/10.1038/ng1981
- Cybulski C, Wokolorczyk D, Jakubowska A, et al (2011). Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol, 29, 3747-52. https://doi.org/10.1200/JCO.2010.34.0778
- De Vivo I, Huggins GS, Hankinson SE, et al (2002). A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc Natl Acad Sci USA, 99, 12263-8. https://doi.org/10.1073/pnas.192172299
- Easton D, Ford D, Peto J (1993). Inherited susceptibility to breast cancer: Cancer Surv, 18, 95-113.
- Engel C, Versmold B, Wappenschmidt B, et al (2010). Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev, 19, 2859-68. https://doi.org/10.1158/1055-9965.EPI-10-0517
- Fiuji H (2011). Study of mutation frequencies 185delAG and 5382insC in breast cancer using the ARMS - PCR method. Mashhad. Ferdowsi University of Mashhad.
- Abbasi S, Nouri M, Azimi C (2012). Estrogen receptor genes variations and breast cancer risk in Iran. Int J Clin Exp Med, 5, 332-41.
- Ahmed S, Gills T, Ghoussaini M, et al (2009). Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet, 41, 585-90. https://doi.org/10.1038/ng.354
- No Association between BRCA1 Immunohistochemical Expression and Tumor Grade, Stage or Overall Survival in Platinum-Treated Epithelial Ovarian Cancer Patients vol.15, pp.10, 2014, https://doi.org/10.7314/APJCP.2014.15.10.4275
- miRNA-1297 Induces Cell Proliferation by Targeting Phosphatase and Tensin Homolog in Testicular Germ Cell Tumor Cells vol.15, pp.15, 2014, https://doi.org/10.7314/APJCP.2014.15.15.6243
- Tobacco Smoke Exposure and Breast Cancer Risk in Thai Urban Females vol.15, pp.17, 2014, https://doi.org/10.7314/APJCP.2014.15.17.7407
- Multivariate Analysis of Prognostic Factors in Male Breast Cancer in Serbia vol.15, pp.7, 2014, https://doi.org/10.7314/APJCP.2014.15.7.3233
- 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
- Association of the PTEN IVS4 (rs3830675) Gene Polymorphism with Reduced Risk of Cancer: Evidence from a Meta-analysis vol.16, pp.3, 2015, https://doi.org/10.7314/APJCP.2015.16.3.897
- A Pilot Genome-wide Association Study of Breast Cancer Susceptibility Loci in Indonesia vol.16, pp.6, 2015, https://doi.org/10.7314/APJCP.2015.16.6.2231
- A Meta-Analysis of the Association between ESR1 Genetic Variants and the Risk of Breast Cancer vol.11, pp.4, 2016, https://doi.org/10.1371/journal.pone.0153314
- Anti-Vascular Endothelial Growth Factor Therapy in Breast Cancer vol.15, pp.12, 2014, https://doi.org/10.3390/ijms151223024
- Polymorphisms in the TOX3/LOC643714 and risk of breast cancer in south China pp.1724-6008, 2018, https://doi.org/10.1177/1724600818755633
- Quantitative proteome and lysine succinylome analyses provide insights into metabolic regulation in breast cancer pp.1880-4233, 2018, https://doi.org/10.1007/s12282-018-0893-1
- Breast cancer risk associated with genes encoding DNA repair MRN complex: a study from Punjab, Pakistan vol.25, pp.3, 2018, https://doi.org/10.1007/s12282-018-0837-9
- Genetic polymorphisms of estrogen receptor genes are associated with breast cancer susceptibility in Chinese women vol.19, pp.1, 2019, https://doi.org/10.1186/s12935-019-0727-z