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Volumn 52, Issue 7, 2013, Pages 656-664

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER DIAGNOSIS; CASE REPORT; CHILD; CHILDHOOD CANCER; CONSTITUTIVE MISMATCH REPAIR DEFICIENCY; FEMALE; GENE FREQUENCY; GENETIC COUNSELING; GENETIC IDENTIFICATION; GLIOBLASTOMA; GLIOSIS; HUMAN; HUMAN TISSUE; MALE; MISMATCH REPAIR; NONHODGKIN LYMPHOMA; OLIGODENDROGLIOMA; PEDIATRICS; PILOMATRIXOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN TUMOR; SOMATIC MUTATION;

EID: 84877924042     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22061     Document Type: Article
Times cited : (46)

References (36)
  • 2
    • 29144462041 scopus 로고    scopus 로고
    • Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations
    • Bandipalliam P. 2005. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer 4:323-333.
    • (2005) Fam Cancer , vol.4 , pp. 323-333
    • Bandipalliam, P.1
  • 3
    • 0035253196 scopus 로고    scopus 로고
    • Elevated mutant frequencies and increased C : G-->T : A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells
    • Baross-Francis A, Makhani N, Liskay RM, Jirik FR. 2001. Elevated mutant frequencies and increased C : G-->T : A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells. Oncogene 20:619-625.
    • (2001) Oncogene , vol.20 , pp. 619-625
    • Baross-Francis, A.1    Makhani, N.2    Liskay, R.M.3    Jirik, F.R.4
  • 4
    • 0021052911 scopus 로고
    • The histologic similarity between craniopharyngioma and odontogenic lesions: A reappraisal
    • Bernstein ML, Buchino JJ. 1983. The histologic similarity between craniopharyngioma and odontogenic lesions: A reappraisal. Oral Surg Oral Med Oral Pathol 56:502-511.
    • (1983) Oral Surg Oral Med Oral Pathol , vol.56 , pp. 502-511
    • Bernstein, M.L.1    Buchino, J.J.2
  • 5
    • 46449117172 scopus 로고    scopus 로고
    • The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: From bench to bedside
    • Boland CR, Koi M, Chang DK, Carethers JM. 2008. The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: From bench to bedside. Fam Cancer 7:41-52.
    • (2008) Fam Cancer , vol.7 , pp. 41-52
    • Boland, C.R.1    Koi, M.2    Chang, D.K.3    Carethers, J.M.4
  • 6
    • 0032953231 scopus 로고    scopus 로고
    • A common human skin tumour is caused by activating mutations in beta-catenin
    • Chan EF, Gat U, McNiff JM, Fuchs E. 1999. A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet 21:410-413.
    • (1999) Nat Genet , vol.21 , pp. 410-413
    • Chan, E.F.1    Gat, U.2    McNiff, J.M.3    Fuchs, E.4
  • 7
    • 78149280797 scopus 로고    scopus 로고
    • The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations
    • Durno CA, Holter S, Sherman PM, Gallinger S. 2010. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol 105:2449-2456.
    • (2010) Am J Gastroenterol , vol.105 , pp. 2449-2456
    • Durno, C.A.1    Holter, S.2    Sherman, P.M.3    Gallinger, S.4
  • 8
    • 84864933830 scopus 로고    scopus 로고
    • Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred
    • Durno CA, Aronson M, Tabori U, Malkin D, Gallinger S, Chan HS. 2011. Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Pediatr Blood Cancer 59:652-656.
    • (2011) Pediatr Blood Cancer , vol.59 , pp. 652-656
    • Durno, C.A.1    Aronson, M.2    Tabori, U.3    Malkin, D.4    Gallinger, S.5    Chan, H.S.6
  • 10
    • 34249738616 scopus 로고    scopus 로고
    • Constitutive deficiency in DNA mismatch repair: Is it time for Lynch III?
    • Felton KE, Gilchrist DM, Andrew SE. 2007. Constitutive deficiency in DNA mismatch repair: Is it time for Lynch III? Clin Genet 71:499-500.
    • (2007) Clin Genet , vol.71 , pp. 499-500
    • Felton, K.E.1    Gilchrist, D.M.2    Andrew, S.E.3
  • 11
    • 84941817747 scopus 로고
    • Pilomatrixoma (calcifying epithelioma)
    • Forbis R, Helwig EB. 1961. Pilomatrixoma (calcifying epithelioma). Arch Dermatol 83:606-618.
    • (1961) Arch Dermatol , vol.83 , pp. 606-618
    • Forbis, R.1    Helwig, E.B.2
  • 13
    • 1842506676 scopus 로고    scopus 로고
    • Beta-catenin expression in benign and malignant pilomatrix neoplasms
    • Hassanein AM, Glanz SM. 2004. Beta-catenin expression in benign and malignant pilomatrix neoplasms. Br J Dermatol 150:511-516.
    • (2004) Br J Dermatol , vol.150 , pp. 511-516
    • Hassanein, A.M.1    Glanz, S.M.2
  • 17
    • 0031870028 scopus 로고    scopus 로고
    • A clinical review of 209 pilomatricomas
    • Julian CG, Bowers PW. 1998. A clinical review of 209 pilomatricomas. J Am Acad Dermatol 39:191-195.
    • (1998) J Am Acad Dermatol , vol.39 , pp. 191-195
    • Julian, C.G.1    Bowers, P.W.2
  • 20
    • 0026686773 scopus 로고
    • Multiple pilomatricomas: Report of two cases and review of the association with myotonic dystrophy
    • Kopeloff I, Orlow SJ, Sanchez MR. 1992. Multiple pilomatricomas: Report of two cases and review of the association with myotonic dystrophy. Cutis 50:290-292.
    • (1992) Cutis , vol.50 , pp. 290-292
    • Kopeloff, I.1    Orlow, S.J.2    Sanchez, M.R.3
  • 21
    • 67650924286 scopus 로고    scopus 로고
    • Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
    • Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. 2009. Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76:1-18.
    • (2009) Clin Genet , vol.76 , pp. 1-18
    • Lynch, H.T.1    Lynch, P.M.2    Lanspa, S.J.3    Snyder, C.L.4    Lynch, J.F.5    Boland, C.R.6
  • 22
  • 23
    • 0033565255 scopus 로고    scopus 로고
    • Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway
    • Mirabelli-Primdahl L, Gryfe R, Kim H, Millar A, Luceri C, Dale D, Holowaty E, Bapat B, Gallinger S, Redston M. 1999. Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 59:3346-3351.
    • (1999) Cancer Res , vol.59 , pp. 3346-3351
    • Mirabelli-Primdahl, L.1    Gryfe, R.2    Kim, H.3    Millar, A.4    Luceri, C.5    Dale, D.6    Holowaty, E.7    Bapat, B.8    Gallinger, S.9    Redston, M.10
  • 24
    • 0035788591 scopus 로고    scopus 로고
    • beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles
    • Moreno-Bueno G, Gamallo C, Pérez-Gallego L, Contreras F, Palacios J. 2001. beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. Br J Dermatol 145:576-581.
    • (2001) Br J Dermatol , vol.145 , pp. 576-581
    • Moreno-Bueno, G.1    Gamallo, C.2    Pérez-Gallego, L.3    Contreras, F.4    Palacios, J.5
  • 26
    • 0037445248 scopus 로고    scopus 로고
    • Role of DNA mismatch repair defects in the pathogenesis of human cancer
    • Peltomäki P. 2003. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 21:1174-1179.
    • (2003) J Clin Oncol , vol.21 , pp. 1174-1179
    • Peltomäki, P.1
  • 29
    • 73849097853 scopus 로고    scopus 로고
    • Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer
    • South CD, Yearsley M, Martin E, Arnold M, Frankel W, Hampel H. 2009. Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer. Genet Med 11:812-817.
    • (2009) Genet Med , vol.11 , pp. 812-817
    • South, C.D.1    Yearsley, M.2    Martin, E.3    Arnold, M.4    Frankel, W.5    Hampel, H.6
  • 33
    • 84941024101 scopus 로고    scopus 로고
    • Relationship between NF1 and constitutive mismatch repair deficiency
    • Upadhyaya M, Cooper DN, editors. . Berlin, Heidelberg: Springer
    • Wimmer K. 2012. Relationship between NF1 and constitutive mismatch repair deficiency. In: Upadhyaya M, Cooper DN, editors. Neurofibromatosis Type 1. Berlin, Heidelberg: Springer, pp. 235-251.
    • (2012) Neurofibromatosis Type 1 , pp. 235-251
    • Wimmer, K.1
  • 34
    • 50649111364 scopus 로고    scopus 로고
    • Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg?
    • Wimmer K, Etzler J. 2008. Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg? Hum Genet 124:105-122.
    • (2008) Hum Genet , vol.124 , pp. 105-122
    • Wimmer, K.1    Etzler, J.2
  • 35
    • 77952317756 scopus 로고    scopus 로고
    • Constitutional mismatch repair-deficiency syndrome
    • Wimmer K, Kratz CP. 2010. Constitutional mismatch repair-deficiency syndrome. Haematologica 95:699-701.
    • (2010) Haematologica , vol.95 , pp. 699-701
    • Wimmer, K.1    Kratz, C.P.2
  • 36
    • 30444456684 scopus 로고    scopus 로고
    • beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas
    • Xia J, Urabe K, Moroi Y, Koga T, Duan H, Li Y, Furue M. 2006. beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas. J Dermatol Sci 41:67-75.
    • (2006) J Dermatol Sci , vol.41 , pp. 67-75
    • Xia, J.1    Urabe, K.2    Moroi, Y.3    Koga, T.4    Duan, H.5    Li, Y.6    Furue, M.7


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