Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

Familial Cancer

Volumn 13, Issue 3, 2014, Pages 415-421

  Hozyasz, Kamil K ^a   Mostowska, Adrianna ^b   Wójcicki, Piotr ^c,d   Lasota, Agnieszka ^e   Offert, Barbara ^a   Balcerek, Adam ^b   Dunin Wilczyńska, Izabella ^e   Jagodziński, Paweł P ^b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c University Clinic of Medical Academy   (Poland)

^d Specialist Medical Center   (Poland)

^e MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

Cancer; CDH1; NSCL P

Indexed keywords

NUCLEOTIDE; UVOMORULIN; CADHERIN; CDH1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CANCER PATIENT; CANCER SUSCEPTIBILITY; CHILD; CLEFT LIP; CLEFT LIP PALATE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEOPLASM; NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE; POLISH CITIZEN; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; BRAIN; CLEFT PALATE; CONGENITAL MALFORMATION; FEMALE; GENETICS; MALE; POLAND; PRESCHOOL CHILD;

ADOLESCENT; BRAIN; CADHERINS; CHILD; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; POLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84907164629     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-014-9727-2     Document Type: Article

References (33)

1. Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167-178
2. Sperber GH, Sperber SM (2013) Embryogenetics of cleft lip and palate. In: Berkowitz S (ed) Cleft lip and palate. Diagnosis and management. Springer, Heidelberg, pp 3-33
3. Bohmer AC, Mangold E, Tessmann P, Mossey PA, Steegers-Theunissen RP, Lindemans J, Bouwman-Both M, Rubini M, Franceschelli P, Aiello V, Peterlin B, Molloy AM, Nothen MM, Knapp M, Ludwig KU (2013) Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample. Am J Med Genet 161A:2545-2549
4. Taioli E, Ragin C, Robertson L, Linkov F, Thurman NE, Vieira AR (2010) Cleft lip and palate in family members of cancer survivors. Cancer Invest 28:958-962
5. Vieira AR, Khaliq S, Lace B (2012) Risk of cancer in relatives of children born with isolated cleft lip and palate. Am J Med Genet 158A:1503-1504
6. Popoff DA, Coelho MP, Martelli DR, Saini R, Coletta RD, Martelli-Junior H (2013) Non-syndromic oral clefts and risk of cancer: a systematic review. Dentistry 3000(1):a002
7. Gonzales CA, Sala N, Rokkas T (2013) Gastric cancer: epidemiologic aspects. Helicobacter 18(Suppl 1):34-38
8. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Gulford P, Blair V, Chung DC, Norton J, Ragunath K, van Krieken JH, Dwerryhouse S (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436-444
9. Corso D, Marrelli D, Roviello F (2011) Familial gastric cancer: update for practice management. Fam Cancer 10:391-396
10. -/-phenotype but shows essential Cdh1 function during placentation. Dev Dyn 239:2330-2344
11. Chen B, Zhou Y, Yang P, Liu L, Qin X-P, Wu X-T (2011) CDH1 - 160C>A polymorphism is an ethnicity-dependent risk factor for gastric cancer. Cytokine 55:266-273
12. Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadion C et al (2006) Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 43:138-142
13. Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simoes-Correia J, van Krieken JH, Ligtenberg MJ, Figueiredo J, van Riel E, Sijmons RH, Plukker JT, van Hillegersberg R, Dekker E, Oliveira C, Cats A, Hoogerbrugge N (2012) CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer 131:367-376
14. Benusiglio PR, Caron O, Consolino E, Duvillard P, Coulet F, Blayau M, Malka D (2013) Cleft lip, cleft palate, hereditary diffuse cancer and germline mutations in CDH1. Int J Cancer 132:2470
15. Li LC, Chui RM, Sasaki M, Nakajima K, Perinchery G, Au HC et al (2000) A single nucleotide polymorphism in the E-cadherin gene promoter alters transcriptional activities. Cancer Res 60:873-876
16. Cattaneo F, Venesio T, Molatore S, Russo A, Fiocca R, Frattini M et al (2006) Functional analysis and case-control study of -160C/A polymorphism in E-cadherin gene promoter association with cancer risk. Anticancer Res 26:4627-4632
17. Wang Y, Yang H, Li L, Wang H, Zhang C, Xia X (2012) E-cadherin (CDH1) gene promoter polymorphism and risk of colorectal cancer. Int J Colorectal Dis 27:151-158
18. Zhan Z, Wu J, Zhang J, Yang P, Tong S, Zhang C, Li J, Yang X, Dong W (2012) CDH1 gene polymorphisms, plasma CDH1 levels and risk of gastric cancer in a Chinese population. Mol Biol Rep 39:8107-8113
19. Song Y, Zhang S (2011) Association of CDH1 promoter polymorphism and the risk of non-syndromic orofacial clefts in a Chinese Han population. Arch Oral Biol 56:68-72
20. Rafighdoost H, Hashemi M, Narouei A, Eskanadri-Nasab E, Dashti-Khadivaki G, Taheri M (2013) Association between CDH1 and MSX1 gene polymorphisms and the risk of nonsyndromic cleft lip and/or palate in a Southeast Iranian population. Cleft Palate Craniofac J 50:e98-e104
21. Vogelaar IP, Figueiredo J, van Rooij IA, Simoes-Correia J, van der Post RS, Melo S, Seruca R, Carels CE, Ligtenberg MJ, Hoogerbrugge N (2013) Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. Hum Mol Genet 22:919-926
22. Dudbridge F (2008) Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 66:87-98
23. Jacobs G, Hellmig S, Huse K, Titz A, Franke A, Kwiatkowski R, Ott S, Kosmahl M, Fischbach W, Lucius R, Klapper W, Folsch UR, Hampe J, Schreiber S, Rosenstiel S (2011) Polymorphisms in the 3-untranslated region of the CDH1 gene are a risk factor for primary gastric diffuse large B-cell lymphoma. Haematologica 96:987-995
24. Pinheiro H, Bordeira-Carrico R, Seixas S, Carvalho J, Senz J, Oliveira P, Inacio P, Gusmao L, Rocha J, Huntsman D, Seruca R, Oliveira C (2010) Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. Hum Mol Genet 19:943-952
25. Beeghly-Fadiel A, Lu W, Gao Y-T, Long J, Deming SL, Cai Q, Zheng Y, Shu X, Zheng W (2010) E-cadherin polymorphism and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat 121:445-452
26. Ierodiakonou D, Postma DS, Koppelman GH, Boezen HM, Gerritsen J, ten Hacken N, Timens W, Vonk JM (2011) E-cadherin gene polymorphisms in asthma patients using inhaled corticosteroids. Eur Respir J 38:1044-1052
27. Letra A, Menezes R, Granjeiro JM, Vieira AR (2009) AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. Birth Defects Res A 85:169-173
28. Lubbe SJ, Di Bernardo MC, Broderick P, Chandler I, Houlston RS (2011) Comprehensive evaluation of the impact of 14 genetic variants on colorectal cancer phenotype and risk. Am J Epidemiol 175:1-10
29. Abuli A, Lozano JJ, Rodriguez-Soler M, Jover R, Bessa X, Munoz J, Esteban-Jurado C et al. (2013) Genetic susceptibility variants associated with colorectal cancer prognosis. Carcinogenesis Advance Access published May 27, 2013
30. Fierro-Gonzalez JC, White MD, Silva JC, Plachta N (2013) Cadherin-dependent filopodia control preimplantation embryo compaction. Nat Cell Biol 15:1424-1433
31. Gortardi CJ, Wong E, Gumbiner BM (2001) E-cadherin suppresses cellular transformation by inhibiting beta-catenin signaling in an adhesion-independent manner. J Cell Biol 153:1049-1060
32. Mostowska A, Hozyasz KK, Biedziak B, Wojcicki P, Lianeri M, Jagodzinski PP (2012) Genotype and haplotype analysis of WNT genes in non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 120:1-8
33. Naoe H, Chiyoda T, Ishizawa J, Masuda K, Saya H, Kuninaka S (2013) The APC/C activator Cdh1 regulates the G2/M transition during differentiation of placental trophoblast stem cells. Biochem Biophys Res Commun 430:757-762