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Volumn 119, Issue 24, 2013, Pages 4341-4349

Li-Fraumeni and Li-Fraumeni - Like syndrome among children diagnosed with pediatric cancer in Southern Brazil

Author keywords

childhood cancer; Li Fraumeni syndrome; Li Fraumeni like syndrome; TP53 mutations; TP53 p.R337H mutation

Indexed keywords

PROTEIN P53;

EID: 84889884686     PISSN: 0008543X     EISSN: 10970142     Source Type: Journal    
DOI: 10.1002/cncr.28346     Document Type: Article
Times cited : (39)

References (41)
  • 2
    • 84889888509 scopus 로고    scopus 로고
    • International Agency for Research on Cancer. Automated Childhood Cancer Information System (ACCIS) Accessed July 1.
    • International Agency for Research on Cancer. Automated Childhood Cancer Information System (ACCIS). accis.iarc.fr/results/index.php Accessed July 1, 2012.
    • (2012)
  • 3
    • 0023737555 scopus 로고
    • The international incidence of childhood cancer
    • Parkin DM, Stiller CA, Draper GJ, et al. The international incidence of childhood cancer. Int J Cancer. 1988; 42: 511-520.
    • (1988) Int J Cancer. , vol.42 , pp. 511-520
    • Parkin, D.M.1    Stiller, C.A.2    Draper, G.J.3
  • 4
    • 0032437406 scopus 로고    scopus 로고
    • Epidemiology of cancer: Global patterns and trends
    • Parkin DM,. Epidemiology of cancer: global patterns and trends. Toxicol Lett. 1998; 102-103: 227-234.
    • (1998) Toxicol Lett. , pp. 227-234
    • Parkin, D.M.1
  • 5
    • 84889887158 scopus 로고    scopus 로고
    • Instituto Nacional do Cancer. Estimativa 2012 Accessed July 1.
    • Instituto Nacional do Cancer. Estimativa 2012. www.inca.gov.br/ estimativa/2012/. Accessed July 1, 2012.
    • (2012)
  • 6
    • 79953769574 scopus 로고    scopus 로고
    • Imaging of cancer predisposition syndromes in children
    • Monsalve J, Kapur J, Malkin D, et al. Imaging of cancer predisposition syndromes in children. Radiographics. 2011; 31: 263-280.
    • (2011) Radiographics. , vol.31 , pp. 263-280
    • Monsalve, J.1    Kapur, J.2    Malkin, D.3
  • 7
    • 0014654544 scopus 로고
    • Rhabdomyosarcoma in children: Epidemiologic study and identification of a familial cancer syndrome
    • Li FP, Fraumeni JF,. Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst. 1969; 43: 1365-1373.
    • (1969) J Natl Cancer Inst. , vol.43 , pp. 1365-1373
    • Li, F.P.1    Fraumeni, J.F.2
  • 8
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    • Malkin D, Li FP, Strong LC, 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
  • 9
    • 0032522623 scopus 로고    scopus 로고
    • Multiple primary cancers in families with Li-Fraumeni syndrome
    • Hisada M, Garber JE, Fung CY, et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998; 90: 606-611.
    • (1998) J Natl Cancer Inst. , vol.90 , pp. 606-611
    • Hisada, M.1    Garber, J.E.2    Fung, C.Y.3
  • 10
    • 0035797528 scopus 로고    scopus 로고
    • Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    • Birch JM, Alston RD, McNally RJ, 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
  • 11
    • 33646394043 scopus 로고    scopus 로고
    • BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    • Lalloo F, Varley J, Moran A, et al. BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer. 2006; 42: 1143-1150.
    • (2006) Eur J Cancer. , vol.42 , pp. 1143-1150
    • Lalloo, F.1    Varley, J.2    Moran, A.3
  • 12
    • 0020045180 scopus 로고
    • Prospective study of a family cancer syndrome
    • Li FP, Fraumeni JF,. Prospective study of a family cancer syndrome. JAMA. 1982; 247: 2692-2694.
    • (1982) JAMA. , vol.247 , pp. 2692-2694
    • Li, F.P.1    Fraumeni, J.F.2
  • 13
    • 0023715595 scopus 로고
    • A cancer family syndrome in twenty-four kindreds
    • Li FP, Fraumeni JF, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988; 48: 5358-5362.
    • (1988) Cancer Res. , vol.48 , pp. 5358-5362
    • Li, F.P.1    Fraumeni, J.F.2    Mulvihill, J.J.3
  • 14
    • 0029558570 scopus 로고
    • Germline mutations in the TP53 gene
    • Eeles RA,. Germline mutations in the TP53 gene. Cancer Surv. 1995; 25: 101-124.
    • (1995) Cancer Surv. , vol.25 , pp. 101-124
    • Eeles, R.A.1
  • 15
    • 0028220688 scopus 로고
    • Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
    • Birch JM, Hartley AL, Tricker KJ, 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
  • 16
    • 0035133356 scopus 로고    scopus 로고
    • Sensitivity and predictive value of criteria for p53 germline mutation screening
    • Chompret A, Abel A, Stoppa-Lyonnet D, et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001; 38: 43-47.
    • (2001) J Med Genet. , vol.38 , pp. 43-47
    • Chompret, A.1    Abel, A.2    Stoppa-Lyonnet, D.3
  • 17
    • 0034071085 scopus 로고    scopus 로고
    • P53 germline mutations in childhood cancers and cancer risk for carrier individuals
    • Chompret A, Brugieres L, Ronsin M, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000; 82: 1932-1937.
    • (2000) Br J Cancer. , vol.82 , pp. 1932-1937
    • Chompret, A.1    Brugieres, L.2    Ronsin, M.3
  • 18
    • 70349320378 scopus 로고    scopus 로고
    • 2009 version of the Chompret criteria for Li Fraumeni syndrome
    • .:; author reply e110.
    • Tinat J, Bougeard G, Baert-Desurmont S, et al. 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009; 27: e108-e109; author reply e110.
    • (2009) J Clin Oncol. , vol.27
    • Tinat, J.1    Bougeard, G.2    Baert-Desurmont, S.3
  • 19
    • 4444292985 scopus 로고    scopus 로고
    • Highly penetrant hereditary cancer syndromes
    • Nagy R, Sweet K, Eng C,. Highly penetrant hereditary cancer syndromes. Oncogene. 2004; 23: 6445-6470.
    • (2004) Oncogene. , vol.23 , pp. 6445-6470
    • Nagy, R.1    Sweet, K.2    Eng, C.3
  • 20
    • 0038051815 scopus 로고    scopus 로고
    • TP53, hChk2, and the Li-Fraumeni syndrome
    • Varley J,. TP53, hChk2, and the Li-Fraumeni syndrome. Methods Mol Biol. 2003; 222: 117-129.
    • (2003) Methods Mol Biol. , vol.222 , pp. 117-129
    • Varley, J.1
  • 21
    • 0037271889 scopus 로고    scopus 로고
    • General keynote: Hereditary cancer: Lessons from Li-Fraumeni syndrome
    • discussion S11-S13.
    • Strong LC,. General keynote: hereditary cancer: lessons from Li-Fraumeni syndrome. Gynecol Oncol. 2003; 88 (1 pt 2): S4-S7; discussion S11-S13.
    • (2003) Gynecol Oncol. , vol.88 , Issue.1 PART 2
    • Strong, L.C.1
  • 22
    • 62449249871 scopus 로고    scopus 로고
    • Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations
    • Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009; 27: 1250-1256.
    • (2009) J Clin Oncol. , vol.27 , pp. 1250-1256
    • Gonzalez, K.D.1    Noltner, K.A.2    Buzin, C.H.3
  • 23
    • 0036917852 scopus 로고    scopus 로고
    • Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
    • Evans DG, Birch JM, Thorneycroft M, et al. Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J Med Genet. 2002; 39: 941-944.
    • (2002) J Med Genet. , vol.39 , pp. 941-944
    • Evans, D.G.1    Birch, J.M.2    Thorneycroft, M.3
  • 24
    • 0030806921 scopus 로고    scopus 로고
    • Germ-line mutations of TP53 in Li-Fraumeni families: An extended study of 39 families
    • Varley JM, McGown G, Thorncroft M, et al. Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res. 1997; 57: 3245-3252.
    • (1997) Cancer Res. , vol.57 , pp. 3245-3252
    • Varley, J.M.1    McGown, G.2    Thorncroft, M.3
  • 25
    • 0035979262 scopus 로고    scopus 로고
    • An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
    • Ribeiro RC, Sandrini F, Figueiredo B, et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci U S A. 2001; 98: 9330-9335.
    • (2001) Proc Natl Acad Sci U S A. , vol.98 , pp. 9330-9335
    • Ribeiro, R.C.1    Sandrini, F.2    Figueiredo, B.3
  • 26
    • 0034750121 scopus 로고    scopus 로고
    • An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors
    • Latronico AC, Pinto EM, Domenice S, et al. An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J Clin Endocrinol Metab. 2001; 86: 4970-4973.
    • (2001) J Clin Endocrinol Metab. , vol.86 , pp. 4970-4973
    • Latronico, A.C.1    Pinto, E.M.2    Domenice, S.3
  • 27
    • 30744441388 scopus 로고    scopus 로고
    • Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation
    • Figueiredo BC, Sandrini R, Zambetti GP, et al. Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. J Med Genet. 2006; 43: 91-96.
    • (2006) J Med Genet. , vol.43 , pp. 91-96
    • Figueiredo, B.C.1    Sandrini, R.2    Zambetti, G.P.3
  • 28
    • 33845645820 scopus 로고    scopus 로고
    • The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
    • Achatz MI, Olivier M, Le Calvez F, et al. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett. 2007; 245: 96-102.
    • (2007) Cancer Lett. , vol.245 , pp. 96-102
    • Achatz, M.I.1    Olivier, M.2    Le Calvez, F.3
  • 29
    • 38949125411 scopus 로고    scopus 로고
    • Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil
    • Palmero EI, Schuler-Faccini L, Caleffi M, et al. Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett. 2008; 261: 21-25.
    • (2008) Cancer Lett. , vol.261 , pp. 21-25
    • Palmero, E.I.1    Schuler-Faccini, L.2    Caleffi, M.3
  • 30
    • 79952933734 scopus 로고    scopus 로고
    • Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil
    • Custodio G, Taques GR, Figueiredo BC, et al. Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. PLoS One. 2011; 6: e18015.
    • (2011) PLoS One. , vol.6
    • Custodio, G.1    Taques, G.R.2    Figueiredo, B.C.3
  • 31
    • 60649108223 scopus 로고    scopus 로고
    • Association of the germline TP53 R337H mutation with breast cancer in southern Brazil
    • Assumpcao JG, Seidinger AL, Mastellaro MJ, et al. Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. BMC Cancer. 2008; 8: 357.
    • (2008) BMC Cancer. , vol.8 , pp. 357
    • Assumpcao, J.G.1    Seidinger, A.L.2    Mastellaro, M.J.3
  • 32
    • 79955507146 scopus 로고    scopus 로고
    • Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil
    • Seidinger AL, Mastellaro MJ, Paschoal Fortes F, et al. Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. Cancer. 2011; 117: 2228-2235.
    • (2011) Cancer. , vol.117 , pp. 2228-2235
    • Seidinger, A.L.1    Mastellaro, M.J.2    Paschoal Fortes, F.3
  • 33
    • 84858866464 scopus 로고    scopus 로고
    • Clinical impact of TP53 alterations in adrenocortical carcinomas
    • Waldmann J, Patsalis N, Fendrich V, et al. Clinical impact of TP53 alterations in adrenocortical carcinomas. Langenbecks Arch Surg. 2012; 397: 209-216.
    • (2012) Langenbecks Arch Surg. , vol.397 , pp. 209-216
    • Waldmann, J.1    Patsalis, N.2    Fendrich, V.3
  • 34
    • 84858020426 scopus 로고    scopus 로고
    • TP53 germline mutations in adult patients with adrenocortical carcinoma
    • Herrmann LJ, Heinze B, Fassnacht M, et al. TP53 germline mutations in adult patients with adrenocortical carcinoma. J Clin Endocrinol Metab. 2012; 97: E476-E485.
    • (2012) J Clin Endocrinol Metab. , vol.97
    • Herrmann, L.J.1    Heinze, B.2    Fassnacht, M.3
  • 35
    • 75149183689 scopus 로고    scopus 로고
    • Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: Evidence for a founder effect
    • Garritano S, Gemignani F, Palmero EI, et al. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat. 2010; 31: 143-150.
    • (2010) Hum Mutat. , vol.31 , pp. 143-150
    • Garritano, S.1    Gemignani, F.2    Palmero, E.I.3
  • 37
    • 84889888904 scopus 로고    scopus 로고
    • International Agency for Research on Cancer. Detection of TP53 Mutations by Direct Sequencing Accessed July 1.
    • International Agency for Research on Cancer. Detection of TP53 Mutations by Direct Sequencing. p53.iarc.fr/download/tp53-directsequencing-iarc.pdf. Accessed July 1, 2012.
    • (2012)
  • 38
    • 0034905435 scopus 로고    scopus 로고
    • Li-Fraumeni syndrome: Update, new data and guidelines for clinical management
    • Frebourg T, Abel A, Bonaiti-Pellie C, et al. Li-Fraumeni syndrome: update, new data and guidelines for clinical management. Bull Cancer. 2001; 88: 581-587.
    • (2001) Bull Cancer. , vol.88 , pp. 581-587
    • Frebourg, T.1    Abel, A.2    Bonaiti-Pellie, C.3
  • 39
    • 50049112746 scopus 로고    scopus 로고
    • Molecular basis of the Li-Fraumeni syndrome: An update from the French LFS families
    • Bougeard G, Sesboue R, Baert-Desurmont S, et al. Molecular basis of 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, S.3
  • 40
    • 0026337295 scopus 로고
    • Tumor suppressor genes
    • Weinberg RA,. Tumor suppressor genes. Science. 1991; 254: 1138-1146.
    • (1991) Science. , vol.254 , pp. 1138-1146
    • Weinberg, R.A.1
  • 41
    • 0035902166 scopus 로고    scopus 로고
    • Cancer genetics
    • Ponder BA,. Cancer genetics. Nature. 2001; 411: 336-341.
    • (2001) Nature. , vol.411 , pp. 336-341
    • Ponder, B.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.