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Volumn 68, Issue 3, 2010, Pages 346-350

Li Fraumeni syndrome: A case with multiple primary cancers and presenting a germline p53 mutation;Le syndrome de Li Fraumeni: à propos d'un cas familial avec cancers multiples et présentant une mutation germinale du gène p53

Author keywords

Genetic disease; Genetics; Li Fraumeni syndrome genetic disease; Multiple cancer; Mutation; P53

Indexed keywords

ADULT; ARTICLE; CASE REPORT; FAMILIAL CANCER; FATALITY; GENETICS; HUMAN; MALE; MUTATION; PEDIGREE; TUMOR SUPPRESSOR GENE;

EID: 77952842607     PISSN: 00033898     EISSN: 19506112     Source Type: Journal    
DOI: 10.1684/abc.2010.0441     Document Type: Article
Times cited : (5)

References (31)
  • 3
    • 0028220688 scopus 로고
    • Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
    • Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994; 54: 1298-1304
    • (1994) Cancer Res , vol.54 , pp. 1298-1304
    • Birch, J.M.1    Hartley, A.L.2    Tricker, K.J.3    Prosser, J.4    Condie, A.5    Kelsey, A.M.6
  • 5
    • 0014587529 scopus 로고
    • Soft tissue sarcomas breast cancer, and other neoplasms: A familial syndrome ?
    • Li FP, Fraumeni JF. Soft tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome ? Ann Intern Med 1969; 71: 747-752
    • (1969) Ann Intern Med , vol.71 , pp. 747-752
    • Li, F.P.1    Fraumeni, J.F.2
  • 7
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms
    • Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science 1990; 250: 1233-1238
    • (1990) Science , vol.250 , pp. 1233-1238
    • Malkin, D.1    Li, F.P.2    Strong, L.C.3    Fraumeni, J.F.4    Nelson, C.E.5    Kim, D.H.6
  • 9
    • 0035797528 scopus 로고    scopus 로고
    • Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    • Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001; 20: 4621-4628
    • (2001) Oncogene , vol.20 , pp. 4621-4628
    • Birch, J.M.1    Alston, R.D.2    McNally, R.J.3    Evans, D.G.4    Kelsey, A.M.5    Harris, M.6
  • 10
    • 0035060741 scopus 로고    scopus 로고
    • Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome
    • Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, et al. Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. J Med Genet 2001; 38: 253-256
    • (2001) J Med Genet , vol.38 , pp. 253-256
    • Bougeard, G.1    Limacher, J.M.2    Martin, C.3    Charbonnier, F.4    Killian, A.5    Delattre, O.6
  • 11
    • 50049112746 scopus 로고    scopus 로고
    • Molecular basis on the Li-Fraumeni syndrome: An update from the French LFS families
    • Bougeard G, Sesboue R, Baert-Desurmont, Vasseur S, Martin C, Tinat J, et al. Molecular basis on the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 2008; 45: 535-538
    • (2008) J Med Genet , vol.45 , pp. 535-538
    • Bougeard, G.1    Sesboue, R.2    Baert-Desurmont Vasseur, S.3    Martin, C.4    Tinat, J.5
  • 12
    • 62449249871 scopus 로고    scopus 로고
    • Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations
    • Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. JCO 2009; 27: 1250-1256
    • (2009) JCO , vol.27 , pp. 1250-1256
    • Gonzalez, K.D.1    Noltner, K.A.2    Buzin, C.H.3    Gu, D.4    Wen-Fong, C.Y.5    Nguyen, V.Q.6
  • 13
    • 33745802010 scopus 로고    scopus 로고
    • Néomutation germinale du gène p53 chez un malade présentant un syndrome de Li-Fraumeni et un adénocarcinome du pancreas
    • Lefrou L, Godart B, De Muret A, Scotto B, Dorval E. Néomutation germinale du gène p53 chez un malade présentant un syndrome de Li-Fraumeni et un adénocarcinome du pancreas. Gastro Enter Clin Biol 2006; 30: 484.
    • (2006) Gastro Enter Clin Biol , vol.30 , pp. 484
    • Lefrou, L.1    Godart, B.2    De Muret, A.3    Scotto, B.4    Dorval, E.5
  • 14
    • 47249142807 scopus 로고    scopus 로고
    • Li-Fraumeni syndrome: A case with 4 separate primary sarcomas and 5 sequential free flaps in the maxillofacial region
    • Agir H, Mackinnom C, Tan S. Li-Fraumeni syndrome: a case with 4 separate primary sarcomas and 5 sequential free flaps in the maxillofacial region. J Oral Maxillofac Surg 2008; 66: 1714-1719
    • (2008) J Oral Maxillofac Surg , vol.66 , pp. 1714-1719
    • Agir, H.1    MacKinnom, C.2    Tan, S.3
  • 15
    • 0030838716 scopus 로고    scopus 로고
    • Epidemiology and etiology of bladder cancer
    • Johanson SL, Cohen SM. Epidemiology and etiology of bladder cancer. Semin Surg Oncol 1997; 13: 291-298
    • (1997) Semin Surg Oncol , vol.13 , pp. 291-298
    • Johanson, S.L.1    Cohen, S.M.2
  • 16
    • 0142110217 scopus 로고
    • Facteurs de risques des tumeurs de vessie; étude épidémiologie chez 701 sujets en Île-de-France
    • Dimenza L, Bourou JC, Vieillefond A, Chondot D, Boccon Gibod L, Zummer K. Facteurs de risques des tumeurs de vessie; étude épidé miologie chez 701 sujets en Île-de-France. Press Med 1991; 20: 1436-1439
    • (1991) Press Med , vol.20 , pp. 1436-1439
    • Dimenza, L.1    Bourou, J.C.2    Vieillefond, A.3    Chondot, D.4    Boccon Gibod, L.5    Zummer, K.6
  • 17
    • 0032325129 scopus 로고    scopus 로고
    • Hydronephrosis as a pronostic indicator in bladder cancer patients
    • Haleblian E, Skinner C, Dickinson G, Lieskovsky G, Skinner G. Hydronephrosis as a pronostic indicator in bladder cancer patients. J Urol 1998; 160: 2011-2014
    • (1998) J Urol , vol.160 , pp. 2011-2014
    • Haleblian, E.1    Skinner, C.2    Dickinson, G.3    Lieskovsky, G.4    Skinner, G.5
  • 18
    • 0016277354 scopus 로고
    • Tumors of the bladder: A multifaceted problem
    • Melicow MM. Tumors of the bladder: a multifaceted problem. J Urol 1974; 112: 467-478
    • (1974) J Urol , vol.112 , pp. 467-478
    • Melicow, M.M.1
  • 20
    • 0029964618 scopus 로고    scopus 로고
    • Les tumeurs stromales du tube digestif: Evaluation prognostique d'une série de 36 cas
    • Ghnassia JP, Wagner M, Velten M. Les tumeurs stromales du tube digestif: evaluation prognostique d'une série de 36 cas. Ann Pathol 1996; 16: 27-32.
    • (1996) Ann Pathol , vol.16 , pp. 27-32
    • Ghnassia, J.P.1    Wagner, M.2    Velten, M.3
  • 21
    • 0142157701 scopus 로고    scopus 로고
    • Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype
    • Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 2003; 63: 6643-6650
    • (2003) Cancer Res , vol.63 , pp. 6643-6650
    • Olivier, M.1    Goldgar, D.E.2    Sodha, N.3    Ohgaki, H.4    Kleihues, P.5    Hainaut, P.6
  • 22
    • 0027983669 scopus 로고
    • Crystal structure of a p53 tumor suppressor-DNA complex: Understanding tumorigenic mutations
    • Cho Y, Gorina S, Jeffrey PD, Pavletich NP. Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. Science 1994; 265: 346-355
    • (1994) Science , vol.265 , pp. 346-355
    • Cho, Y.1    Gorina, S.2    Jeffrey, P.D.3    Pavletich, N.P.4
  • 23
    • 0032480248 scopus 로고    scopus 로고
    • Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome
    • Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, Tricker KJ, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 1998; 17: 1061-1068
    • (1998) Oncogene , vol.17 , pp. 1061-1068
    • Birch, J.M.1    Blair, V.2    Kelsey, A.M.3    Evans, D.G.4    Harris, M.5    Tricker, K.J.6
  • 24
    • 0036255776 scopus 로고    scopus 로고
    • The Li-Fraumeni syndrome
    • Chompret A. The Li-Fraumeni syndrome. Biochimie 2002; 84: 75-82.
    • (2002) Biochimie , vol.84 , pp. 75-82
    • Chompret, A.1
  • 25
    • 0035421321 scopus 로고    scopus 로고
    • P53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: Further evidence of CHK2 in inherited cancer predisposition
    • Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, et al. p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 2001; 61: 5718-5722
    • (2001) Cancer Res , vol.61 , pp. 5718-5722
    • Vahteristo, P.1    Tamminen, A.2    Karvinen, P.3    Eerola, H.4    Eklund, C.5    Aaltonen, L.A.6
  • 26
    • 0031414301 scopus 로고    scopus 로고
    • The Li-Fraumeni syndrome: An inherited susceptibility to cancer
    • Evans SC, Lozano G. The Li-Fraumeni syndrome: an inherited susceptibility to cancer. Mol Med Today 1997; 3: 390-395
    • (1997) Mol Med Today , vol.3 , pp. 390-395
    • Evans, S.C.1    Lozano, G.2
  • 27
    • 77952795267 scopus 로고    scopus 로고
    • Expertise collective Inserm. Risques héréditaires de cancers du sein et de l'ovaire. Quelle prise en charge ?
    • Expertise collective Inserm. Risques héréditaires de cancers du sein et de l'ovaire. Quelle prise en charge ? Paris: Inserm, 1998.
    • (1998) Paris: Inserm
  • 29
    • 0037222381 scopus 로고    scopus 로고
    • Germline TP53 mutations and Li-Fraumeni syndrome
    • Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 2003; 21: 313-320
    • (2003) Hum Mutat , vol.21 , pp. 313-320
    • Varley, J.M.1
  • 30
    • 40949118501 scopus 로고    scopus 로고
    • Fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome
    • Asciari S, Van den Abbeele AD, Diller LR, Rastarhuyeva I, Yap J, Schneider K, et al. Fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA 2008; 299: 1315-1319
    • (2008) JAMA , vol.299 , pp. 1315-1319
    • Asciari, S.1    Van Den Abbeele, A.D.2    Diller, L.R.3    Rastarhuyeva, I.4    Yap, J.5    Schneider, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.