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Volumn , Issue , 2013, Pages 35-49

E-Cadherin germline mutations

Author keywords

CDH1; Germline mutations; Hereditary disorders

Indexed keywords


EID: 84906257084     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-94-007-6570-2_5     Document Type: Chapter
Times cited : (4)

References (76)
  • 2
    • 55249127333 scopus 로고    scopus 로고
    • Histopathological and molecular analysis of gastrectomy specimens from hereditarydiffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk
    • Barber ME, Save V, Carneiro F, Dwerryhouse S, Lao-Sirieix P, Hardwick RH, Caldas C, Fitzgerald RC (2008) Histopathological and molecular analysis of gastrectomy specimens from hereditarydiffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol 216:286-294. doi: 10.1002/path.2415.
    • (2008) J Pathol , vol.216 , pp. 286-294
    • Barber, M.E.1    Save, V.2    Carneiro, F.3    Dwerryhouse, S.4    Lao-Sirieix, P.5    Hardwick, R.H.6    Caldas, C.7    Fitzgerald, R.C.8
  • 4
    • 0031686121 scopus 로고    scopus 로고
    • Mutations of the human E-cadherin (CDH1) gene
    • Berx G, Becker KF, Hofler H, van Roy F (1998) Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 12:226-237. doi: 10.1002/(SICI)1098-1004(1998)12:4<226::AID-HUMU2> 3.0.CO;2-D.
    • (1998) Hum Mutat , vol.12 , pp. 226-237
    • Berx, G.1    Becker, K.F.2    Hofler, H.3    Van Roy, F.4
  • 7
    • 38449100410 scopus 로고    scopus 로고
    • Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
    • Carneiro F, Oliveira C, Suriano G, Seruca R (2008) Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol 61:25-30. doi: 10.1136/jcp.2006.043679.
    • (2008) J Clin Pathol , vol.61 , pp. 25-30
    • Carneiro, F.1    Oliveira, C.2    Suriano, G.3    Seruca, R.4
  • 8
    • 49349102802 scopus 로고    scopus 로고
    • Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family
    • Caron O, Schielke A, Svrcek M, Flejou JF, Garzon J, Olschwang S, Sezeur A (2008) Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family. Am J Gastroenterol 103:2160-2161. doi: 10.1111/j.1572-0241.2008.01982-17.x.
    • (2008) Am J Gastroenterol , vol.103 , pp. 2160-2161
    • Caron, O.1    Schielke, A.2    Svrcek, M.3    Flejou, J.F.4    Garzon, J.5    Olschwang, S.6    Sezeur, A.7
  • 11
    • 84875753760 scopus 로고    scopus 로고
    • Somatic mutations and deletions of the E-cadherin gene predict poor survival of gastric cancer patients
    • Corso G, Carvalho J, Marrelli D, Vindigni C, Carvalho B, Seruca R, Roviello F, Oliveira C (2012) Somatic mutations and deletions of the E-cadherin gene predict poor survival of gastric cancer patients. J Clin Oncol 31(7):868-875. doi: 10.1200/JCO.2012.44.4612.
    • (2012) J Clin Oncol , vol.31 , Issue.7 , pp. 868-875
    • Corso, G.1    Carvalho, J.2    Marrelli, D.3    Vindigni, C.4    Carvalho, B.5    Seruca, R.6    Roviello, F.7    Oliveira, C.8
  • 12
    • 79951800135 scopus 로고    scopus 로고
    • Cleft lip and palate: Understanding genetic and environmental influences
    • Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167-178. doi: 10.1038/nrg2933.
    • (2011) Nat Rev Genet , vol.12 , pp. 167-178
    • Dixon, M.J.1    Marazita, M.L.2    Beaty, T.H.3    Murray, J.C.4
  • 18
    • 64249106236 scopus 로고    scopus 로고
    • Novel human pathological mutations. Gene symbol: CDH1. Disease: Gastric cancer
    • Ghaffari SR, Dastan J, Rafati M, Sabokbar T (2009) Novel human pathological mutations. Gene symbol: CDH1. Disease: gastric cancer. Hum Genet 125:337.
    • (2009) Hum Genet , vol.125 , pp. 337
    • Ghaffari, S.R.1    Dastan, J.2    Rafati, M.3    Sabokbar, T.4
  • 22
    • 77954673384 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: Translation of CDH1 germline mutations into clinical practice
    • Guilford P, Humar B, Blair V (2010) Hereditary diffuse gastric cancer: Translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1-10. doi: 10.1007/s10120-009-0531-x.
    • (2010) Gastric Cancer , vol.13 , pp. 1-10
    • Guilford, P.1    Humar, B.2    Blair, V.3
  • 25
    • 34548565806 scopus 로고    scopus 로고
    • Overexpression of the microRNA hsa-miR- 200c leads to reduced expression of transcription factor 8 and increased expression of E-cadherin
    • Hurteau GJ, Carlson JA, Spivack SD, Brock GJ (2007) Overexpression of the microRNA hsa-miR- 200c leads to reduced expression of transcription factor 8 and increased expression of E-cadherin. Cancer Res 67:7972-7976. doi: 10.1158/0008-5472.CAN-07-1058.
    • (2007) Cancer Res , vol.67 , pp. 7972-7976
    • Hurteau, G.J.1    Carlson, J.A.2    Spivack, S.D.3    Brock, G.J.4
  • 28
    • 0000457490 scopus 로고
    • Familial gastric cancer
    • Jones EG (1964) Familial gastric cancer. N Z Med J 63:287-296.
    • (1964) N Z Med J , vol.63 , pp. 287-296
    • Jones, E.G.1
  • 29
    • 0037140125 scopus 로고    scopus 로고
    • Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer
    • Jonsson BA, Bergh A, Stattin P, Emmanuelsson M, Gronberg H (2002) Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer (Journal international du cancer) 98:838-843. doi: 10.1002/ijc.10258.
    • (2002) Int J Cancer (Journal International Du Cancer) , vol.98 , pp. 838-843
    • Jonsson, B.A.1    Bergh, A.2    Stattin, P.3    Emmanuelsson, M.4    Gronberg, H.5
  • 34
    • 0034045431 scopus 로고    scopus 로고
    • Gastric cancer in young patients: Demographic, clinicopathological, and prognostic factors in 92 patients
    • Koea JB, Karpeh MS, Brennan MF (2000) Gastric cancer in young patients: demographic, clinicopathological, and prognostic factors in 92 patients. Ann Surg Oncol 7:346-351.
    • (2000) Ann Surg Oncol , vol.7 , pp. 346-351
    • Koea, J.B.1    Karpeh, M.S.2    Brennan, M.F.3
  • 35
    • 12644292106 scopus 로고
    • The two histological main types of gastric carcinoma: Diffuse and so-called intestinal- Type carcinoma, An attempt at a histo-clinical classification
    • Lauren P (1965) The two histological main types of gastric carcinoma: diffuse and so-called intestinal- Type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 64:31-49.
    • (1965) Acta Pathol Microbiol Scand , vol.64 , pp. 31-49
    • Lauren, P.1
  • 37
    • 84855705342 scopus 로고    scopus 로고
    • The identification and management of hereditary diffuse gastric cancer in a large Jordanian family
    • Lynch HT, Aldoss I, Lynch JF (2011) The identification and management of hereditary diffuse gastric cancer in a large Jordanian family. Fam Cancer 10:667-672. doi: 10.1007/s10689- 011-9463-9.
    • (2011) Fam Cancer , vol.10 , pp. 667-672
    • Lynch, H.T.1    Aldoss, I.2    Lynch, J.F.3
  • 41
    • 77955083854 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation
    • Matsukuma KE, Mullins FM, Dietz L, Zehnder JL, Ford JM, Chun NM, Schrijver I (2010) Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. Hum Pathol 41:1200-1203. doi: 10.1016/j.humpath.2010.01.022.
    • (2010) Hum Pathol , vol.41 , pp. 1200-1203
    • Matsukuma, K.E.1    Mullins, F.M.2    Dietz, L.3    Zehnder, J.L.4    Ford, J.M.5    Chun, N.M.6    Schrijver, I.7
  • 46
    • 0032770085 scopus 로고    scopus 로고
    • A clinicopathological study in young patients with gastric carcinoma
    • Nakamura T, Yao T, Niho Y, Tsuneyoshi M (1999) A clinicopathological study in young patients with gastric carcinoma. J Surg Oncol 71:214-219. doi: 10.1002/(SICI)1096-9098 (199908)71:4<214::AID-JSO2>3.0.CO;2-D.
    • (1999) J Surg Oncol , vol.71 , pp. 214-219
    • Nakamura, T.1    Yao, T.2    Niho, Y.3    Tsuneyoshi, M.4
  • 53
    • 34249289041 scopus 로고    scopus 로고
    • Snail, Zeb and bHLH factors in tumour progression: An alliance against the epithelial phenotype?
    • Peinado H, Olmeda D, Cano A (2007) Snail, Zeb and bHLH factors in tumour progression: An alliance against the epithelial phenotype? Nat Rev Cancer 7:415-428. doi: 10.1038/nrc2131.
    • (2007) Nat Rev Cancer , vol.7 , pp. 415-428
    • Peinado, H.1    Olmeda, D.2    Cano, A.3
  • 54
    • 0035211026 scopus 로고    scopus 로고
    • Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
    • Pharoah PD, Guilford P, Caldas C (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121:1348-1353. doi: 10.1053/gast.2001.29611.
    • (2001) Gastroenterology , vol.121 , pp. 1348-1353
    • Pharoah, P.D.1    Guilford, P.2    Caldas, C.3
  • 66
    • 54949124637 scopus 로고    scopus 로고
    • Endoplasmic reticulum quality control: A new mechanism of E-cadherin regulation and its implication in cancer
    • Simoes-Correia J, Figueiredo J, Oliveira C, van Hengel J, Seruca R, van Roy F, Suriano G (2008) Endoplasmic reticulum quality control: A new mechanism of E-cadherin regulation and its implication in cancer. Hum Mol Genet 17:3566-3576. doi: 10.1093/hmg/ddn249.
    • (2008) Hum Mol Genet , vol.17 , pp. 3566-3576
    • Simoes-Correia, J.1    Figueiredo, J.2    Oliveira, C.3    Van Hengel, J.4    Seruca, R.5    Van Roy, F.6    Suriano, G.7
  • 67
    • 84858685771 scopus 로고    scopus 로고
    • E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer
    • Simoes-Correia J, Figueiredo J, Lopes R, Stricher F, Oliveira C, Serrano L, Seruca R (2012) E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer. PLoS One 7:e33783. doi: 10.1371/journal.pone.0033783.
    • (2012) PLoS One , vol.7 , pp. e33783
    • Simoes-Correia, J.1    Figueiredo, J.2    Lopes, R.3    Stricher, F.4    Oliveira, C.5    Serrano, L.6    Seruca, R.7
  • 70
    • 0025818032 scopus 로고
    • Genetic manipulation of E-cadherin expression by epithelial tumor cells reveals an invasion suppressor role
    • Vleminckx K, Vakaet L Jr, Mareel M, Fiers W, van Roy F (1991) Genetic manipulation of E-cadherin expression by epithelial tumor cells reveals an invasion suppressor role. Cell 66:107-119. doi: 10.1016/0092-8674(91)90143-M.
    • (1991) Cell , vol.66 , pp. 107-119
    • Vleminckx, K.1    Vakaet, L.2    Mareel, M.3    Fiers, W.4    Van Roy, F.5
  • 71
    • 0037270548 scopus 로고    scopus 로고
    • Ile-Leu substitution (I415L) in germline E-cadherin gene (CDH1) in Japanese familial gastric cancer
    • Wang Y, Song JP, Ikeda M, Shinmura K, Yokota J, Sugimura H (2003) Ile-Leu substitution (I415L) in germline E-cadherin gene (CDH1) in Japanese familial gastric cancer. Jpn J Clin Oncol 33:17-20. doi: 10.1093/jjco/hyg002.
    • (2003) Jpn J Clin Oncol , vol.33 , pp. 17-20
    • Wang, Y.1    Song, J.P.2    Ikeda, M.3    Shinmura, K.4    Yokota, J.5    Sugimura, H.6
  • 72
    • 84858153109 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: Multidisciplinary case report with review of the literature
    • Wilcox R, Perpich M, Noffsinger A, Posner MC, Cooper K (2011) Hereditary diffuse gastric cancer: multidisciplinary case report with review of the literature. Pathol Res Int 2011:845821. doi: 10.4061/2011/845821.
    • (2011) Pathol Res Int , vol.2011 , pp. 845821
    • Wilcox, R.1    Perpich, M.2    Noffsinger, A.3    Posner, M.C.4    Cooper, K.5
  • 73
    • 79960010866 scopus 로고    scopus 로고
    • Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer
    • Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, Bignon YJ (2011) Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117:3112-3117. doi: 10.1002/cncr.25876.
    • (2011) Cancer , vol.117 , pp. 3112-3117
    • Xie, Z.M.1    Li, L.S.2    Laquet, C.3    Penault-Llorca, F.4    Uhrhammer, N.5    Xie, X.M.6    Bignon, Y.J.7
  • 75
    • 0032920262 scopus 로고    scopus 로고
    • Germline mutations of E-cadherin gene in Korean familial gastric cancer patients
    • Yoon KA, Ku JL, Yang HK, Kim WH, Park SY, Park JG (1999) Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. J Hum Genet 44:177-180. doi: 10.1007/s100380050137.
    • (1999) J Hum Genet , vol.44 , pp. 177-180
    • Yoon, K.A.1    Ku, J.L.2    Yang, H.K.3    Kim, W.H.4    Park, S.Y.5    Park, J.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.