1. 1. Tvorogov D, Sundvall M, Kurppa K, Hollmén M, Repo S, Johnson MS, et al. Somatic mutations of ErbB4: selective loss-of-function phenotype affecting signal transduction pathways in cancer. J Biol Chem. 2009; 284(9): 5582-5591. [ DOI:10.1074/jbc.M805438200] [ PMID] 2. NCBI, Gene, Genes and mapped phenotypes, "ERBB4 erb-b2 receptor tyrosine kinase 4 [Homo sapiens (human)]," 2018. 3. https://www.uicc.org/news/globocan-2020-new-cancer-data 4. Smit L. Berns K. An integrated genomic approach identifies that the PI3K/AKT/FOXO pathway is involved in breast cancer tumor initiation. Oncotarget. 2016; 7(3): 2596-610. [ DOI:10.18632/oncotarget.6354] [ PMID] [ ] 5. Yuan P, Liu D, Deng M. Identification of differently expressed genes with specific SNP loci for breast cancer by the integration of SNP and gene expression profiling analyses. Pathol Oncol Res. 2015; 21(2): 469-75. [ DOI:10.1007/s12253-014-9851-1] [ PMID] 6. Ma G, Ge Y, Gu D, Du M, Chu H, Chen J, et al. Functional annotation of colorectal cancer susceptibility loci identifies MLH1 rs1800734 associated with MSI patients. Gut. 2016; 65(7): 1227-1228. [ DOI:10.1136/gutjnl-2016-311543] [ PMID] 7. Takeda T, Banno K, Yanokura M, Adachi M, Iijima M, Kunitomi H, et al. Methylation Analysis of DNA mismatch repair genes using DNA derived from the peripheral blood of patients with endometrial cancer: epimutation in endometrial carcinogenesis. Genes. 2016; 7(10): 1-12. [ DOI:10.3390/genes7100086] [ PMID] [ ] 8. Malik SS, Zia A, Mubarik S, Masood N, Rashid S, Sherrard A, et al. Correlation of MLH1 polymorphisms, survival statistics, in silico assessment and gene downregulation with clinical outcomes among breast cancer cases. Mol Biol Rep. 2020; 47(1): 683-692. [ DOI:10.1007/s11033-019-05175-x] [ PMID] 9. Haghighi M, Radpour M, Aghajani R, Zali KN, Molaei M, Zali MR. Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer. Int J of Colorectal Dis. 2009; 24(8): 885-893. [ DOI:10.1007/s00384-009-0731-1] [ PMID] 10. Lynch HT, Chapelle A. Hereditary Colorectal Cancer. N Engl J Med. 2003; 348(10): 919-932. [ DOI:10.1056/NEJMra012242] [ PMID] 11. Merg A, Lynch HT, Lynch JF, Howe JR. Hereditary colorectal cancer-part II. Curr Probl Surg. 2005; 42(1): 267-333. [ DOI:10.1067/j.cpsurg.2005.02.003] [ PMID] 12. Ma Y, Chen Y, Petersen I. Expression and promoter DNA methylation of MLH1 in colorectal cancer and lung cancer. Pathol Res Pract. 2017; 213(4):333-338. [ DOI:10.1016/j.prp.2017.01.014] [ PMID] 13. Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, et al. Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for pop - ulation-level germline mismatch repair gene mutation testing. J Clin Oncol. 2014; 32(2):90. [ DOI:10.1200/JCO.2013.51.2129] [ PMID] [ ] 14. Kappil M, Terry MB, Delgado-Cruzata L, Liao Y, Santella RM. Mismatch repair polymorphisms as markers of breast can - cer prevalence in the Breast Cancer Family Registry. Anticancer Res. 2016; 36(9):4437-4441. [ DOI:10.21873/anticanres.10987] [ PMID] [ ] 15. Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, et al. Cancer risks for MLH 1 and MSH 2 mutation carriers. Hum Mutat. 2013; 34(3):490-497. [ DOI:10.1002/humu.22262] [ PMID] [ ] 16. Lauren E. McCullough,Regina M. Santella,Rebecca J. Cleveland,Robert C. Millikan,Andrew F. Olshan,Kari E. Polymorphisms in DNA repair genes, recreational physical activity and breast cancer risk. Int J Cancer. 2014; 134(3): 654-663. [ DOI:10.1002/ijc.28383] [ PMID] [ ] 17. Wei W, Jiang M, Luo L, Li Z, Wang P, Dong WQ. Colorectal cancer susceptibility variants alter risk of breast cancer in a Chinese Han population. Genet Mol Res. 2013; 12(4): 6268-6274. [ DOI:10.4238/2013.December.4.14] [ PMID] 18. https://www.ncbi.nlm.nih.gov/snp/rs1972820#frequency_tab 19. Sabarinathan R, Tafer H, Seemann S. RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. Hum Mutat. 2013; 34(4): 546-56. [ DOI:10.1002/humu.22273] [ PMID] [ ]
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