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Volumn 12, Issue 6, 2011, Pages 559-567

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: A prospective observational study

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CANCER RISK; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL CANCER; FEASIBILITY STUDY; FEMALE; FUNDING; GENE; GENE MUTATION; GENETIC ANALYSIS; GLIOMA; HUMAN; MALE; MYELODYSPLASTIC SYNDROME; OBSERVATIONAL STUDY; OUTCOME ASSESSMENT; OVERALL SURVIVAL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; THYROID ADENOMA; TP53 GENE;

EID: 79957474904     PISSN: 14702045     EISSN: 14745488     Source Type: Journal    
DOI: 10.1016/S1470-2045(11)70119-X     Document Type: Article
Times cited : (321)

References (45)
  • 2
    • 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
  • 3
    • 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
  • 4
    • 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
  • 5
    • 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
  • 6
    • 70349320378 scopus 로고    scopus 로고
    • 2009 version of the Chompret criteria for Li Fraumeni syndrome
    • 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.
    • (2009) J Clin Oncol , vol.27
    • Tinat, J.1    Bougeard, G.2    Baert-Desurmont, S.3
  • 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, 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
  • 8
    • 0025648762 scopus 로고
    • Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
    • Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 1990, 348:747-749.
    • (1990) Nature , vol.348 , pp. 747-749
    • Srivastava, S.1    Zou, Z.Q.2    Pirollo, K.3    Blattner, W.4    Chang, E.H.5
  • 9
    • 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
  • 10
    • 0036258111 scopus 로고    scopus 로고
    • The IARC TP53 database: new online mutation analysis and recommendations to users
    • Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat 2002, 19:607-614.
    • (2002) Hum Mutat , vol.19 , pp. 607-614
    • Olivier, M.1    Eeles, R.2    Hollstein, M.3    Khan, M.A.4    Harris, C.C.5    Hainaut, P.6
  • 11
    • 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
  • 12
    • 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
  • 13
    • 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
  • 14
    • 7044240639 scopus 로고    scopus 로고
    • Inherited cancer in children: practical/ethical problems and challenges
    • Tischkowitz M, Rosser E Inherited cancer in children: practical/ethical problems and challenges. Eur J Cancer 2004, 40:2459-2470.
    • (2004) Eur J Cancer , vol.40 , pp. 2459-2470
    • Tischkowitz, M.1    Rosser, E.2
  • 16
    • 0038501057 scopus 로고    scopus 로고
    • American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility
    • American Society of Clinical Oncology
    • American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003, 21:2397-2406. American Society of Clinical Oncology.
    • (2003) J Clin Oncol , vol.21 , pp. 2397-2406
  • 18
    • 23644446120 scopus 로고    scopus 로고
    • Whole-body MRI of paediatric malignant tumours: comparison with conventional oncological imaging methods
    • Goo HW, Choi SH, Ghim T, Moon HN, Seo JJ Whole-body MRI of paediatric malignant tumours: comparison with conventional oncological imaging methods. Pediatr Radiol 2005, 35:766-773.
    • (2005) Pediatr Radiol , vol.35 , pp. 766-773
    • Goo, H.W.1    Choi, S.H.2    Ghim, T.3    Moon, H.N.4    Seo, J.J.5
  • 19
    • 1842506972 scopus 로고    scopus 로고
    • Advances in magnetic resonance imaging of brain tumours
    • Rees J Advances in magnetic resonance imaging of brain tumours. Curr Opin Neurol 2003, 16:643-650.
    • (2003) Curr Opin Neurol , vol.16 , pp. 643-650
    • Rees, J.1
  • 20
    • 33744952176 scopus 로고    scopus 로고
    • Clinical review: adrenocortical carcinoma: clinical update
    • Allolio B, Fassnacht M Clinical review: adrenocortical carcinoma: clinical update. J Clin Endocrinol Metab 2006, 91:2027-2037.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2027-2037
    • Allolio, B.1    Fassnacht, M.2
  • 21
    • 0031661112 scopus 로고    scopus 로고
    • An application of methods for clustered binary responses to a cardiovascular study with small sample size
    • Luta G, Koch GG, Cascio WE, Smith WT An application of methods for clustered binary responses to a cardiovascular study with small sample size. J Biopharm Stat 1998, 8:87-102.
    • (1998) J Biopharm Stat , vol.8 , pp. 87-102
    • Luta, G.1    Koch, G.G.2    Cascio, W.E.3    Smith, W.T.4
  • 22
    • 79953752268 scopus 로고
    • Regression analysis of multivariate incomplete failure time data by modeling marginal distributions
    • Wei LJ, Lin DY, Weissfeld L Regression analysis of multivariate incomplete failure time data by modeling marginal distributions. J Am Stat Assoc 1989, 84:1065-1073.
    • (1989) J Am Stat Assoc , vol.84 , pp. 1065-1073
    • Wei, L.J.1    Lin, D.Y.2    Weissfeld, L.3
  • 23
    • 77951629484 scopus 로고    scopus 로고
    • TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors
    • Tabori U, Shlien A, Baskin B, et al. TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol 2010, 28:1995-2001.
    • (2010) J Clin Oncol , vol.28 , pp. 1995-2001
    • Tabori, U.1    Shlien, A.2    Baskin, B.3
  • 24
    • 0028872836 scopus 로고
    • Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents
    • American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of DirectorsAmerican College of Medical Genetics Board of Directors
    • Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 1995, 57:1233-1241. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of DirectorsAmerican College of Medical Genetics Board of Directors.
    • (1995) Am J Hum Genet , vol.57 , pp. 1233-1241
  • 25
    • 0029564372 scopus 로고
    • Identification and management of inherited cancer susceptibility
    • Li FP Identification and management of inherited cancer susceptibility. Environ Health Perspect 1995, 103(suppl 8):297-300.
    • (1995) Environ Health Perspect , vol.103 , Issue.SUPPL. 8 , pp. 297-300
    • Li, F.P.1
  • 26
    • 0038624107 scopus 로고    scopus 로고
    • Ethical issues with genetic testing in pediatrics
    • American Academy of Pediatrics, Committee on BioethicsCommittee on Bioethics
    • Ethical issues with genetic testing in pediatrics. Pediatrics 2001, 107:1451-1455. American Academy of Pediatrics, Committee on BioethicsCommittee on Bioethics.
    • (2001) Pediatrics , vol.107 , pp. 1451-1455
  • 27
    • 77249085667 scopus 로고    scopus 로고
    • Childhood predictive genetic testing for Li-Fraumeni syndrome
    • Evans DG, Lunt P, Clancy T, Eeles R Childhood predictive genetic testing for Li-Fraumeni syndrome. Fam Cancer 2010, 9:65-69.
    • (2010) Fam Cancer , vol.9 , pp. 65-69
    • Evans, D.G.1    Lunt, P.2    Clancy, T.3    Eeles, R.4
  • 28
    • 85047682409 scopus 로고    scopus 로고
    • Guidelines for diagnosis and therapy of MEN type 1 and type 2
    • Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001, 86:5658-5671.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5658-5671
    • Brandi, M.L.1    Gagel, R.F.2    Angeli, A.3
  • 29
    • 34147123158 scopus 로고    scopus 로고
    • Inherited cancer susceptibility syndromes in paediatric practice
    • Field M, Shanley S, Kirk J Inherited cancer susceptibility syndromes in paediatric practice. J Paediatr Child Health 2007, 43:219-229.
    • (2007) J Paediatr Child Health , vol.43 , pp. 219-229
    • Field, M.1    Shanley, S.2    Kirk, J.3
  • 30
    • 33644747476 scopus 로고    scopus 로고
    • Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study
    • Jenkins MA, Croitoru ME, Monga N, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 2006, 15:312-314.
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , pp. 312-314
    • Jenkins, M.A.1    Croitoru, M.E.2    Monga, N.3
  • 31
    • 0037222942 scopus 로고    scopus 로고
    • Guidelines for genetic testing of healthy children
    • Canadian Paediatric Society BC, Canadian College of Medical GeneticistsCanadian College of Medical Geneticists, Ethics and Public Policy CommitteeEthics and Public Policy Committee
    • Arbour L Guidelines for genetic testing of healthy children. Paediatr Child Health 2003, 8:42-45. Canadian Paediatric Society BC, Canadian College of Medical GeneticistsCanadian College of Medical Geneticists, Ethics and Public Policy CommitteeEthics and Public Policy Committee.
    • (2003) Paediatr Child Health , vol.8 , pp. 42-45
    • Arbour, L.1
  • 32
    • 0028896366 scopus 로고
    • ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data
    • Le Bihan C, Moutou C, Brugieres L, Feunteun J, Bonaiti-Pellie C ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol 1995, 12:13-25.
    • (1995) Genet Epidemiol , vol.12 , pp. 13-25
    • Le Bihan, C.1    Moutou, C.2    Brugieres, L.3    Feunteun, J.4    Bonaiti-Pellie, C.5
  • 33
    • 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
  • 34
    • 0035921190 scopus 로고    scopus 로고
    • Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome
    • Limacher JM, Frebourg T, Natarajan-Ame S, Bergerat JP Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer 2001, 96:238-242.
    • (2001) Int J Cancer , vol.96 , pp. 238-242
    • Limacher, J.M.1    Frebourg, T.2    Natarajan-Ame, S.3    Bergerat, J.P.4
  • 35
    • 0029826927 scopus 로고    scopus 로고
    • Fibroblasts from Li-Fraumeni patients are resistant to low dose-rate irradiation
    • Sproston AR, Boyle JM, Heighway J, Birch JM, Scott D Fibroblasts from Li-Fraumeni patients are resistant to low dose-rate irradiation. Int J Radiat Biol 1996, 70:145-150.
    • (1996) Int J Radiat Biol , vol.70 , pp. 145-150
    • Sproston, A.R.1    Boyle, J.M.2    Heighway, J.3    Birch, J.M.4    Scott, D.5
  • 36
    • 33646782954 scopus 로고    scopus 로고
    • P53 and disease: when the guardian angel fails
    • Royds JA, Iacopetta B p53 and disease: when the guardian angel fails. Cell Death Differ 2006, 13:1017-1026.
    • (2006) Cell Death Differ , vol.13 , pp. 1017-1026
    • Royds, J.A.1    Iacopetta, B.2
  • 37
    • 77954572243 scopus 로고    scopus 로고
    • Genetic testing in li-fraumeni syndrome: uptake and psychosocial consequences
    • Lammens CR, Aaronson NK, Wagner A, et al. Genetic testing in li-fraumeni syndrome: uptake and psychosocial consequences. J Clin Oncol 2010, 28:3008-3014.
    • (2010) J Clin Oncol , vol.28 , pp. 3008-3014
    • Lammens, C.R.1    Aaronson, N.K.2    Wagner, A.3
  • 38
    • 40949118501 scopus 로고    scopus 로고
    • F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome
    • Masciari S, Van den Abbeele AD, Diller LR, et al. F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA 2008, 299:1315-1319.
    • (2008) JAMA , vol.299 , pp. 1315-1319
    • Masciari, S.1    Van den Abbeele, A.D.2    Diller, L.R.3
  • 39
    • 19744380352 scopus 로고    scopus 로고
    • Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)
    • Leach MO, Boggis CR, Dixon AK, et al. Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 2005, 365:1769-1778.
    • (2005) Lancet , vol.365 , pp. 1769-1778
    • Leach, M.O.1    Boggis, C.R.2    Dixon, A.K.3
  • 41
    • 42049096998 scopus 로고    scopus 로고
    • Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome
    • Tabori U, Malkin D Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome. Cancer Res 2008, 68:2053-2057.
    • (2008) Cancer Res , vol.68 , pp. 2053-2057
    • Tabori, U.1    Malkin, D.2
  • 42
    • 33745235771 scopus 로고    scopus 로고
    • Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
    • Bougeard G, Baert-Desurmont S, Tournier I, et al. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J Med Genet 2006, 43:531-533.
    • (2006) J Med Genet , vol.43 , pp. 531-533
    • Bougeard, G.1    Baert-Desurmont, S.2    Tournier, I.3
  • 43
    • 72449128179 scopus 로고    scopus 로고
    • TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis
    • Marcel V, Palmero EI, Falagan-Lotsch P, et al. TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. J Med Genet 2009, 46:766-772.
    • (2009) J Med Genet , vol.46 , pp. 766-772
    • Marcel, V.1    Palmero, E.I.2    Falagan-Lotsch, P.3
  • 44
    • 33847691863 scopus 로고    scopus 로고
    • Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome
    • Tabori U, Nanda S, Druker H, Lees J, Malkin D Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res 2007, 67:1415-1418.
    • (2007) Cancer Res , vol.67 , pp. 1415-1418
    • Tabori, U.1    Nanda, S.2    Druker, H.3    Lees, J.4    Malkin, D.5
  • 45
    • 34547123315 scopus 로고    scopus 로고
    • Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age
    • Trkova M, Prochazkova K, Krutilkova V, Sumerauer D, Sedlacek Z Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. Cancer 2007, 110:694-702.
    • (2007) Cancer , vol.110 , pp. 694-702
    • Trkova, M.1    Prochazkova, K.2    Krutilkova, V.3    Sumerauer, D.4    Sedlacek, Z.5


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