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. 1997;76(1):1–14. doi: 10.1038/bjc.1997.328

Li-Fraumeni syndrome--a molecular and clinical review.

J M Varley 1, D G Evans 1, J M Birch 1
PMCID: PMC2223793  PMID: 9218725

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arrowsmith C. H., Morin P. New insights into p53 function from structural studies. Oncogene. 1996 Apr 4;12(7):1379–1385. [PubMed] [Google Scholar]
  2. Bang Y. J., Kang S. H., Kim T. Y., Jung C. W., Oh S. M., Choe K. J., Kim N. K. The first documentation of Li-Fraumeni syndrome in Korea. J Korean Med Sci. 1995 Jun;10(3):205–210. doi: 10.3346/jkms.1995.10.3.205. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Barnes D. M., Hanby A. M., Gillett C. E., Mohammed S., Hodgson S., Bobrow L. G., Leigh I. M., Purkis T., MacGeoch C., Spurr N. K. Abnormal expression of wild type p53 protein in normal cells of a cancer family patient. Lancet. 1992 Aug 1;340(8814):259–263. doi: 10.1016/0140-6736(92)92354-i. [DOI] [PubMed] [Google Scholar]
  4. Bech-Hansen N. T., Blattner W. A., Sell B. M., McKeen E. A., Lampkin B. C., Fraumeni J. F., Jr, Paterson M. C. Transmission of in-vitro radioresistance in a cancer-prone family. Lancet. 1981 Jun 20;1(8234):1335–1337. doi: 10.1016/s0140-6736(81)92517-4. [DOI] [PubMed] [Google Scholar]
  5. Birch J. M., Hartley A. L., Blair V., Kelsey A. M., Harris M., Teare M. D., Jones P. H. Cancer in the families of children with soft tissue sarcoma. Cancer. 1990 Nov 15;66(10):2239–2248. doi: 10.1002/1097-0142(19901115)66:10<2239::aid-cncr2820661034>3.0.co;2-q. [DOI] [PubMed] [Google Scholar]
  6. Birch J. M., Hartley A. L., Marsden H. B., Harris M., Swindell R. Excess risk of breast cancer in the mothers of children with soft tissue sarcomas. Br J Cancer. 1984 Mar;49(3):325–331. doi: 10.1038/bjc.1984.51. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Birch J. M., Hartley A. L., Tricker K. J., Prosser J., Condie A., Kelsey A. M., Harris M., Jones P. H., Binchy A., Crowther D. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994 Mar 1;54(5):1298–1304. [PubMed] [Google Scholar]
  8. Birch J. M., Heighway J., Teare M. D., Kelsey A. M., Hartley A. L., Tricker K. J., Crowther D., Lane D. P., Santibáez-Koref M. F. Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53. Br J Cancer. 1994 Dec;70(6):1176–1181. doi: 10.1038/bjc.1994.468. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Birch J. M. Li-Fraumeni syndrome. Eur J Cancer. 1994;30A(13):1935–1941. doi: 10.1016/0959-8049(94)00383-g. [DOI] [PubMed] [Google Scholar]
  10. Bischoff F. Z., Yim S. O., Pathak S., Grant G., Siciliano M. J., Giovanella B. C., Strong L. C., Tainsky M. A. Spontaneous abnormalities in normal fibroblasts from patients with Li-Fraumeni cancer syndrome: aneuploidy and immortalization. Cancer Res. 1990 Dec 15;50(24):7979–7984. [PubMed] [Google Scholar]
  11. Bouffler S. D., Kemp C. J., Balmain A., Cox R. Spontaneous and ionizing radiation-induced chromosomal abnormalities in p53-deficient mice. Cancer Res. 1995 Sep 1;55(17):3883–3889. [PubMed] [Google Scholar]
  12. Brugières L., Gardes M., Moutou C., Chompret A., Meresse V., Martin A., Poisson N., Flamant F., Bonaïti-Pellié C., Lemerle J. Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. Cancer Res. 1993 Feb 1;53(3):452–455. [PubMed] [Google Scholar]
  13. Børresen A. L., Andersen T. I., Garber J., Barbier-Piraux N., Thorlacius S., Eyfjörd J., Ottestad L., Smith-Sørensen B., Hovig E., Malkin D. Screening for germ line TP53 mutations in breast cancer patients. Cancer Res. 1992 Jun 1;52(11):3234–3236. [PubMed] [Google Scholar]
  14. Camplejohn R. S., Perry P., Hodgson S. V., Turner G., Williams A., Upton C., MacGeoch C., Mohammed S., Barnes D. M. A possible screening test for inherited p53-related defects based on the apoptotic response of peripheral blood lymphocytes to DNA damage. Br J Cancer. 1995 Sep;72(3):654–662. doi: 10.1038/bjc.1995.390. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Cavenee W. K., Dryja T. P., Phillips R. A., Benedict W. F., Godbout R., Gallie B. L., Murphree A. L., Strong L. C., White R. L. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. 1983 Oct 27-Nov 2Nature. 305(5937):779–784. doi: 10.1038/305779a0. [DOI] [PubMed] [Google Scholar]
  16. Chen P., Iavarone A., Fick J., Edwards M., Prados M., Israel M. A. Constitutional p53 mutations associated with brain tumors in young adults. Cancer Genet Cytogenet. 1995 Jul 15;82(2):106–115. doi: 10.1016/0165-4608(94)00213-u. [DOI] [PubMed] [Google Scholar]
  17. Cho Y., Gorina S., Jeffrey P. D., Pavletich N. P. Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. Science. 1994 Jul 15;265(5170):346–355. doi: 10.1126/science.8023157. [DOI] [PubMed] [Google Scholar]
  18. Chung R., Whaley J., Kley N., Anderson K., Louis D., Menon A., Hettlich C., Freiman R., Hedley-Whyte E. T., Martuza R. TP53 gene mutations and 17p deletions in human astrocytomas. Genes Chromosomes Cancer. 1991 Sep;3(5):323–331. doi: 10.1002/gcc.2870030502. [DOI] [PubMed] [Google Scholar]
  19. Clore G. M., Omichinski J. G., Sakaguchi K., Zambrano N., Sakamoto H., Appella E., Gronenborn A. M. High-resolution structure of the oligomerization domain of p53 by multidimensional NMR. Science. 1994 Jul 15;265(5170):386–391. doi: 10.1126/science.8023159. [DOI] [PubMed] [Google Scholar]
  20. Cross S. M., Sanchez C. A., Morgan C. A., Schimke M. K., Ramel S., Idzerda R. L., Raskind W. H., Reid B. J. A p53-dependent mouse spindle checkpoint. Science. 1995 Mar 3;267(5202):1353–1356. doi: 10.1126/science.7871434. [DOI] [PubMed] [Google Scholar]
  21. Diller L., Sexsmith E., Gottlieb A., Li F. P., Malkin D. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. J Clin Invest. 1995 Apr;95(4):1606–1611. doi: 10.1172/JCI117834. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Donehower L. A., Harvey M., Slagle B. L., McArthur M. J., Montgomery C. A., Jr, Butel J. S., Bradley A. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature. 1992 Mar 19;356(6366):215–221. doi: 10.1038/356215a0. [DOI] [PubMed] [Google Scholar]
  23. Easton D., Ford D., Peto J. Inherited susceptibility to breast cancer. Cancer Surv. 1993;18:95–113. [PubMed] [Google Scholar]
  24. Eeles R. A. Germline mutations in the TP53 gene. Cancer Surv. 1995;25:101–124. [PubMed] [Google Scholar]
  25. Eeles R. A. Predictive testing for germline mutations in the p53 gene: are all the questions answered? Eur J Cancer. 1993;29A(10):1361–1365. doi: 10.1016/0959-8049(93)90001-v. [DOI] [PubMed] [Google Scholar]
  26. Eeles R. A., Warren W., Knee G., Bartek J., Averill D., Stratton M. R., Blake P. R., Tait D. M., Lane D. P., Easton D. F. Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings. Oncogene. 1993 May;8(5):1269–1276. [PubMed] [Google Scholar]
  27. Eliyahu D., Raz A., Gruss P., Givol D., Oren M. Participation of p53 cellular tumour antigen in transformation of normal embryonic cells. Nature. 1984 Dec 13;312(5995):646–649. doi: 10.1038/312646a0. [DOI] [PubMed] [Google Scholar]
  28. Felix C. A., Hosler M. R., Provisor D., Salhany K., Sexsmith E. A., Slater D. J., Cheung N. K., Winick N. J., Strauss E. A., Heyn R. The p53 gene in pediatric therapy-related leukemia and myelodysplasia. Blood. 1996 May 15;87(10):4376–4381. [PubMed] [Google Scholar]
  29. Felix C. A., Nau M. M., Takahashi T., Mitsudomi T., Chiba I., Poplack D. G., Reaman G. H., Cole D. E., Letterio J. J., Whang-Peng J. Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. J Clin Invest. 1992 Feb;89(2):640–647. doi: 10.1172/JCI115630. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Felix C. A., Slavc I., Dunn M., Strauss E. A., Phillips P. C., Rorke L. B., Sutton L., Bunin G. R., Biegel J. A. p53 gene mutations in pediatric brain tumors. Med Pediatr Oncol. 1995 Dec;25(6):431–436. doi: 10.1002/mpo.2950250603. [DOI] [PubMed] [Google Scholar]
  31. Felix C. A., Strauss E. A., D'Amico D., Tsokos M., Winter S., Mitsudomi T., Nau M. M., Brown D. L., Leahey A. M., Horowitz M. E. A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene. 1993 May;8(5):1203–1210. [PubMed] [Google Scholar]
  32. Fields S., Jang S. K. Presence of a potent transcription activating sequence in the p53 protein. Science. 1990 Aug 31;249(4972):1046–1049. doi: 10.1126/science.2144363. [DOI] [PubMed] [Google Scholar]
  33. Finlay C. A., Hinds P. W., Levine A. J. The p53 proto-oncogene can act as a suppressor of transformation. Cell. 1989 Jun 30;57(7):1083–1093. doi: 10.1016/0092-8674(89)90045-7. [DOI] [PubMed] [Google Scholar]
  34. Flaman J. M., Frebourg T., Moreau V., Charbonnier F., Martin C., Chappuis P., Sappino A. P., Limacher I. M., Bron L., Benhattar J. A simple p53 functional assay for screening cell lines, blood, and tumors. Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3963–3967. doi: 10.1073/pnas.92.9.3963. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Ford J. M., Hanawalt P. C. Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance. Proc Natl Acad Sci U S A. 1995 Sep 12;92(19):8876–8880. doi: 10.1073/pnas.92.19.8876. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Frebourg T., Barbier N., Kassel J., Ng Y. S., Romero P., Friend S. H. A functional screen for germ line p53 mutations based on transcriptional activation. Cancer Res. 1992 Dec 15;52(24):6976–6978. [PubMed] [Google Scholar]
  37. Frebourg T., Barbier N., Yan Y. X., Garber J. E., Dreyfus M., Fraumeni J., Jr, Li F. P., Friend S. H. Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet. 1995 Mar;56(3):608–615. [PMC free article] [PubMed] [Google Scholar]
  38. Grayson G. H., Moore S., Schneider B. G., Saldivar V., Hensel C. H. Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma. Am J Pediatr Hematol Oncol. 1994 Nov;16(4):341–347. [PubMed] [Google Scholar]
  39. Greenblatt M. S., Bennett W. P., Hollstein M., Harris C. C. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res. 1994 Sep 15;54(18):4855–4878. [PubMed] [Google Scholar]
  40. Gudmundsson J., Johannesdottir G., Bergthorsson J. T., Arason A., Ingvarsson S., Egilsson V., Barkardottir R. B. Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. Cancer Res. 1995 Nov 1;55(21):4830–4832. [PubMed] [Google Scholar]
  41. Gutiérrez M. I., Bhatia K. G., Barreiro C., Spangler G., Schvartzmann E., Muriel F. S., Magrath I. T. A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. Hum Mol Genet. 1994 Dec;3(12):2247–2248. doi: 10.1093/hmg/3.12.2247. [DOI] [PubMed] [Google Scholar]
  42. Hamelin R., Barichard F., Henry I., Junien C., Thomas G. Single base pair germ-line deletion in the p53 gene in a cancer predisposed family. Hum Genet. 1994 Jul;94(1):88–90. doi: 10.1007/BF02272849. [DOI] [PubMed] [Google Scholar]
  43. Harris C. C. The 1995 Walter Hubert Lecture--molecular epidemiology of human cancer: insights from the mutational analysis of the p53 tumour-suppressor gene. Br J Cancer. 1996 Feb;73(3):261–269. doi: 10.1038/bjc.1996.47. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Hartley A. L., Birch J. M., Kelsey A. M., Marsden H. B., Harris M., Teare M. D. Are germ cell tumors part of the Li-Fraumeni cancer family syndrome? Cancer Genet Cytogenet. 1989 Oct 15;42(2):221–226. doi: 10.1016/0165-4608(89)90090-3. [DOI] [PubMed] [Google Scholar]
  45. Hartley A. L., Birch J. M., Marsden H. B., Harris M. Malignant melanoma in families of children with osteosarcoma, chondrosarcoma, and adrenal cortical carcinoma. J Med Genet. 1987 Nov;24(11):664–668. doi: 10.1136/jmg.24.11.664. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Harvey M., McArthur M. J., Montgomery C. A., Jr, Butel J. S., Bradley A., Donehower L. A. Spontaneous and carcinogen-induced tumorigenesis in p53-deficient mice. Nat Genet. 1993 Nov;5(3):225–229. doi: 10.1038/ng1193-225. [DOI] [PubMed] [Google Scholar]
  47. Heyn R., Haeberlen V., Newton W. A., Ragab A. H., Raney R. B., Tefft M., Wharam M., Ensign L. G., Maurer H. M. Second malignant neoplasms in children treated for rhabdomyosarcoma. Intergroup Rhabdomyosarcoma Study Committee. J Clin Oncol. 1993 Feb;11(2):262–270. doi: 10.1200/JCO.1993.11.2.262. [DOI] [PubMed] [Google Scholar]
  48. Hollstein M., Shomer B., Greenblatt M., Soussi T., Hovig E., Montesano R., Harris C. C. Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation. Nucleic Acids Res. 1996 Jan 1;24(1):141–146. doi: 10.1093/nar/24.1.141. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Hollstein M., Sidransky D., Vogelstein B., Harris C. C. p53 mutations in human cancers. Science. 1991 Jul 5;253(5015):49–53. doi: 10.1126/science.1905840. [DOI] [PubMed] [Google Scholar]
  50. Horio Y., Suzuki H., Ueda R., Koshikawa T., Sugiura T., Ariyoshi Y., Shimokata K., Takahashi T., Takahashi T. Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. Oncogene. 1994 Apr;9(4):1231–1235. [PubMed] [Google Scholar]
  51. Iavarone A., Matthay K. K., Steinkirchner T. M., Israel M. A. Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma. Proc Natl Acad Sci U S A. 1992 May 1;89(9):4207–4209. doi: 10.1073/pnas.89.9.4207. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Ichii S., Horii A., Nakatsuru S., Furuyama J., Utsunomiya J., Nakamura Y. Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP). Hum Mol Genet. 1992 Sep;1(6):387–390. doi: 10.1093/hmg/1.6.387. [DOI] [PubMed] [Google Scholar]
  53. Ishioka C., Frebourg T., Yan Y. X., Vidal M., Friend S. H., Schmidt S., Iggo R. Screening patients for heterozygous p53 mutations using a functional assay in yeast. Nat Genet. 1993 Oct;5(2):124–129. doi: 10.1038/ng1093-124. [DOI] [PubMed] [Google Scholar]
  54. Jeffrey P. D., Gorina S., Pavletich N. P. Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms. Science. 1995 Mar 10;267(5203):1498–1502. doi: 10.1126/science.7878469. [DOI] [PubMed] [Google Scholar]
  55. Jenkins J. R., Rudge K., Chumakov P., Currie G. A. The cellular oncogene p53 can be activated by mutagenesis. 1985 Oct 31-Nov 6Nature. 317(6040):816–818. doi: 10.1038/317816a0. [DOI] [PubMed] [Google Scholar]
  56. Jenkins J. R., Rudge K., Currie G. A. Cellular immortalization by a cDNA clone encoding the transformation-associated phosphoprotein p53. Nature. 1984 Dec 13;312(5995):651–654. doi: 10.1038/312651a0. [DOI] [PubMed] [Google Scholar]
  57. Jolly K. W., Malkin D., Douglass E. C., Brown T. F., Sinclair A. E., Look A. T. Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. Oncogene. 1994 Jan;9(1):97–102. [PubMed] [Google Scholar]
  58. Kastan M. B., Onyekwere O., Sidransky D., Vogelstein B., Craig R. W. Participation of p53 protein in the cellular response to DNA damage. Cancer Res. 1991 Dec 1;51(23 Pt 1):6304–6311. [PubMed] [Google Scholar]
  59. Kemp C. J., Wheldon T., Balmain A. p53-deficient mice are extremely susceptible to radiation-induced tumorigenesis. Nat Genet. 1994 Sep;8(1):66–69. doi: 10.1038/ng0994-66. [DOI] [PubMed] [Google Scholar]
  60. Knudson A. G., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. doi: 10.1073/pnas.68.4.820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  61. Kovar H., Auinger A., Jug G., Müller T., Pillwein K. p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. Oncogene. 1992 Nov;7(11):2169–2173. [PubMed] [Google Scholar]
  62. Kuerbitz S. J., Plunkett B. S., Walsh W. V., Kastan M. B. Wild-type p53 is a cell cycle checkpoint determinant following irradiation. Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7491–7495. doi: 10.1073/pnas.89.16.7491. [DOI] [PMC free article] [PubMed] [Google Scholar]
  63. Kyritsis A. P., Bondy M. L., Xiao M., Berman E. L., Cunningham J. E., Lee P. S., Levin V. A., Saya H. Germline p53 gene mutations in subsets of glioma patients. J Natl Cancer Inst. 1994 Mar 2;86(5):344–349. doi: 10.1093/jnci/86.5.344. [DOI] [PubMed] [Google Scholar]
  64. Lalle P., Moyret-Lalle C., Wang Q., Vialle J. M., Navarro C., Bressac-de Paillerets B., Magaud J. P., Ozturk M. Genomic stability and wild-type p53 function of lymphoblastoid cells with germ-line p53 mutation. Oncogene. 1995 Jun 15;10(12):2447–2454. [PubMed] [Google Scholar]
  65. Lane D. P. Cancer. p53, guardian of the genome. Nature. 1992 Jul 2;358(6381):15–16. doi: 10.1038/358015a0. [DOI] [PubMed] [Google Scholar]
  66. Lane D. P., Crawford L. V. T antigen is bound to a host protein in SV40-transformed cells. Nature. 1979 Mar 15;278(5701):261–263. doi: 10.1038/278261a0. [DOI] [PubMed] [Google Scholar]
  67. Lavigueur A., Maltby V., Mock D., Rossant J., Pawson T., Bernstein A. High incidence of lung, bone, and lymphoid tumors in transgenic mice overexpressing mutant alleles of the p53 oncogene. Mol Cell Biol. 1989 Sep;9(9):3982–3991. doi: 10.1128/mcb.9.9.3982. [DOI] [PMC free article] [PubMed] [Google Scholar]
  68. Law J. C., Strong L. C., Chidambaram A., Ferrell R. E. A germ line mutation in exon 5 of the p53 gene in an extended cancer family. Cancer Res. 1991 Dec 1;51(23 Pt 1):6385–6387. [PubMed] [Google Scholar]
  69. Le Bihan C., Moutou C., Brugières L., Feunteun J., Bonaïti-Pellié C. ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol. 1995;12(1):13–25. doi: 10.1002/gepi.1370120103. [DOI] [PubMed] [Google Scholar]
  70. Lee J. M., Abrahamson J. L., Kandel R., Donehower L. A., Bernstein A. Susceptibility to radiation-carcinogenesis and accumulation of chromosomal breakage in p53 deficient mice. Oncogene. 1994 Dec;9(12):3731–3736. [PubMed] [Google Scholar]
  71. Lee J. M., Bernstein A. p53 mutations increase resistance to ionizing radiation. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5742–5746. doi: 10.1073/pnas.90.12.5742. [DOI] [PMC free article] [PubMed] [Google Scholar]
  72. Levine A. J., Momand J., Finlay C. A. The p53 tumour suppressor gene. Nature. 1991 Jun 6;351(6326):453–456. doi: 10.1038/351453a0. [DOI] [PubMed] [Google Scholar]
  73. Li F. P., Fraumeni J. F., Jr Collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. Cancer Epidemiol Biomarkers Prev. 1994 Dec;3(8):715–717. [PubMed] [Google Scholar]
  74. Li F. P., Fraumeni J. F., Jr, Mulvihill J. J., Blattner W. A., Dreyfus M. G., Tucker M. A., Miller R. W. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988 Sep 15;48(18):5358–5362. [PubMed] [Google Scholar]
  75. Li F. P., Fraumeni J. F., Jr Prospective study of a family cancer syndrome. JAMA. 1982 May 21;247(19):2692–2694. [PubMed] [Google Scholar]
  76. Li F. P., Fraumeni J. F., Jr Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst. 1969 Dec;43(6):1365–1373. [PubMed] [Google Scholar]
  77. Li F. P., Garber J. E., Friend S. H., Strong L. C., Patenaude A. F., Juengst E. T., Reilly P. R., Correa P., Fraumeni J. F., Jr Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Natl Cancer Inst. 1992 Aug 5;84(15):1156–1160. doi: 10.1093/jnci/84.15.1156. [DOI] [PubMed] [Google Scholar]
  78. Li Y. J., Sanson M., Hoang-Xuan K., Delattre J. Y., Poisson M., Thomas G., Hamelin R. Incidence of germ-line p53 mutations in patients with gliomas. Int J Cancer. 1995 Dec 20;64(6):383–387. doi: 10.1002/ijc.2910640606. [DOI] [PubMed] [Google Scholar]
  79. Linzer D. I., Levine A. J. Characterization of a 54K dalton cellular SV40 tumor antigen present in SV40-transformed cells and uninfected embryonal carcinoma cells. Cell. 1979 May;17(1):43–52. doi: 10.1016/0092-8674(79)90293-9. [DOI] [PubMed] [Google Scholar]
  80. Liu B., Parsons R., Papadopoulos N., Nicolaides N. C., Lynch H. T., Watson P., Jass J. R., Dunlop M., Wyllie A., Peltomäki P. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med. 1996 Feb;2(2):169–174. doi: 10.1038/nm0296-169. [DOI] [PubMed] [Google Scholar]
  81. Liu P. K., Kraus E., Wu T. A., Strong L. C., Tainsky M. A. Analysis of genomic instability in Li-Fraumeni fibroblasts with germline p53 mutations. Oncogene. 1996 Jun 6;12(11):2267–2278. [PMC free article] [PubMed] [Google Scholar]
  82. Livingstone L. R., White A., Sprouse J., Livanos E., Jacks T., Tlsty T. D. Altered cell cycle arrest and gene amplification potential accompany loss of wild-type p53. Cell. 1992 Sep 18;70(6):923–935. doi: 10.1016/0092-8674(92)90243-6. [DOI] [PubMed] [Google Scholar]
  83. Lustbader E. D., Williams W. R., Bondy M. L., Strom S., Strong L. C. Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet. 1992 Aug;51(2):344–356. [PMC free article] [PubMed] [Google Scholar]
  84. Lübbe J., von Ammon K., Watanabe K., Hegi M. E., Kleihues P. Familial brain tumour syndrome associated with a p53 germline deletion of codon 236. Brain Pathol. 1995 Jan;5(1):15–23. doi: 10.1111/j.1750-3639.1995.tb00572.x. [DOI] [PubMed] [Google Scholar]
  85. MacGeoch C., Turner G., Bobrow L. G., Barnes D. M., Bishop D. T., Spurr N. K. Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. J Med Genet. 1995 Mar;32(3):186–190. doi: 10.1136/jmg.32.3.186. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Malkin D., Jolly K. W., Barbier N., Look A. T., Friend S. H., Gebhardt M. C., Andersen T. I., Børresen A. L., Li F. P., Garber J. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med. 1992 May 14;326(20):1309–1315. doi: 10.1056/NEJM199205143262002. [DOI] [PubMed] [Google Scholar]
  87. Malkin D., Li F. P., Strong L. C., Fraumeni J. F., Jr, Nelson C. E., Kim D. H., Kassel J., Gryka M. A., Bischoff F. Z., Tainsky M. A. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990 Nov 30;250(4985):1233–1238. doi: 10.1126/science.1978757. [DOI] [PubMed] [Google Scholar]
  88. Mazoyer S., Lalle P., Moyret-Lalle C., Marçais C., Schraub S., Frappaz D., Sobol H., Ozturk M. Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene. 1994 Apr;9(4):1237–1239. [PubMed] [Google Scholar]
  89. McIntyre J. F., Smith-Sorensen B., Friend S. H., Kassell J., Borresen A. L., Yan Y. X., Russo C., Sato J., Barbier N., Miser J. Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma. J Clin Oncol. 1994 May;12(5):925–930. doi: 10.1200/JCO.1994.12.5.925. [DOI] [PubMed] [Google Scholar]
  90. Metzger A. K., Sheffield V. C., Duyk G., Daneshvar L., Edwards M. S., Cogen P. H. Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7825–7829. doi: 10.1073/pnas.88.17.7825. [DOI] [PMC free article] [PubMed] [Google Scholar]
  91. Milner J., Medcalf E. A. Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation. Cell. 1991 May 31;65(5):765–774. doi: 10.1016/0092-8674(91)90384-b. [DOI] [PubMed] [Google Scholar]
  92. Nishino H., Knöll A., Buettner V. L., Frisk C. S., Maruta Y., Haavik J., Sommer S. S. p53 wild-type and p53 nullizygous Big Blue transgenic mice have similar frequencies and patterns of observed mutation in liver, spleen and brain. Oncogene. 1995 Jul 20;11(2):263–270. [PubMed] [Google Scholar]
  93. Parada L. F., Land H., Weinberg R. A., Wolf D., Rotter V. Cooperation between gene encoding p53 tumour antigen and ras in cellular transformation. Nature. 1984 Dec 13;312(5995):649–651. doi: 10.1038/312649a0. [DOI] [PubMed] [Google Scholar]
  94. Parshad R., Price F. M., Pirollo K. F., Chang E. H., Sanford K. K. Cytogenetic response to G2-phase X irradiation in relation to DNA repair and radiosensitivity in a cancer-prone family with Li-Fraumeni syndrome. Radiat Res. 1993 Nov;136(2):236–240. [PubMed] [Google Scholar]
  95. Paules R. S., Levedakou E. N., Wilson S. J., Innes C. L., Rhodes N., Tlsty T. D., Galloway D. A., Donehower L. A., Tainsky M. A., Kaufmann W. K. Defective G2 checkpoint function in cells from individuals with familial cancer syndromes. Cancer Res. 1995 Apr 15;55(8):1763–1773. [PubMed] [Google Scholar]
  96. Pearson A. D., Craft A. W., Ratcliffe J. M., Birch J. M., Morris-Jones P., Roberts D. F. Two families with the Li-Fraumeni cancer family syndrome. J Med Genet. 1982 Oct;19(5):362–365. doi: 10.1136/jmg.19.5.362. [DOI] [PMC free article] [PubMed] [Google Scholar]
  97. Plummer S. J., Santibáez-Koref M., Kurosaki T., Liao S., Noble B., Fain P. R., Anton-Culver H., Casey G. A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. Oncogene. 1994 Nov;9(11):3273–3280. [PubMed] [Google Scholar]
  98. Ponder B. Cancer. Gene losses in human tumours. Nature. 1988 Sep 29;335(6189):400–402. doi: 10.1038/335400a0. [DOI] [PubMed] [Google Scholar]
  99. Porter D. E., Holden S. T., Steel C. M., Cohen B. B., Wallace M. R., Reid R. A significant proportion of patients with osteosarcoma may belong to Li-Fraumeni cancer families. J Bone Joint Surg Br. 1992 Nov;74(6):883–886. doi: 10.1302/0301-620X.74B6.1447251. [DOI] [PubMed] [Google Scholar]
  100. Prosser J., Porter D., Coles C., Condie A., Thompson A. M., Chetty U., Steel C. M., Evans H. J. Constitutional p53 mutation in a non-Li-Fraumeni cancer family. Br J Cancer. 1992 Apr;65(4):527–528. doi: 10.1038/bjc.1992.109. [DOI] [PMC free article] [PubMed] [Google Scholar]
  101. Rogan E. M., Bryan T. M., Hukku B., Maclean K., Chang A. C., Moy E. L., Englezou A., Warneford S. G., Dalla-Pozza L., Reddel R. R. Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. Mol Cell Biol. 1995 Sep;15(9):4745–4753. doi: 10.1128/mcb.15.9.4745. [DOI] [PMC free article] [PubMed] [Google Scholar]
  102. Sah V. P., Attardi L. D., Mulligan G. J., Williams B. O., Bronson R. T., Jacks T. A subset of p53-deficient embryos exhibit exencephaly. Nat Genet. 1995 Jun;10(2):175–180. doi: 10.1038/ng0695-175. [DOI] [PubMed] [Google Scholar]
  103. Sameshima Y., Tsunematsu Y., Watanabe S., Tsukamoto T., Kawa-ha K., Hirata Y., Mizoguchi H., Sugimura T., Terada M., Yokota J. Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma. J Natl Cancer Inst. 1992 May 6;84(9):703–707. doi: 10.1093/jnci/84.9.703. [DOI] [PubMed] [Google Scholar]
  104. Sands A. T., Suraokar M. B., Sanchez A., Marth J. E., Donehower L. A., Bradley A. p53 deficiency does not affect the accumulation of point mutations in a transgene target. Proc Natl Acad Sci U S A. 1995 Aug 29;92(18):8517–8521. doi: 10.1073/pnas.92.18.8517. [DOI] [PMC free article] [PubMed] [Google Scholar]
  105. Santibáez-Koref M. F., Birch J. M., Hartley A. L., Jones P. H., Craft A. W., Eden T., Crowther D., Kelsey A. M., Harris M. p53 germline mutations in Li-Fraumeni syndrome. Lancet. 1991 Dec 14;338(8781):1490–1491. doi: 10.1016/0140-6736(91)92303-j. [DOI] [PubMed] [Google Scholar]
  106. Schärer E., Iggo R. Mammalian p53 can function as a transcription factor in yeast. Nucleic Acids Res. 1992 Apr 11;20(7):1539–1545. doi: 10.1093/nar/20.7.1539. [DOI] [PMC free article] [PubMed] [Google Scholar]
  107. Scott R. J., Krummenacher F., Mary J. L., Weber W., Spycher M., Müller H. Vererbbare p53-Mutation bei einem Patienten mit Mehrfachtumoren: Bedeutung für die genetische Beratung. Schweiz Med Wochenschr. 1993 Jun 26;123(25):1287–1292. [PubMed] [Google Scholar]
  108. Shay J. W., Tomlinson G., Piatyszek M. A., Gollahon L. S. Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome. Mol Cell Biol. 1995 Jan;15(1):425–432. doi: 10.1128/mcb.15.1.425. [DOI] [PMC free article] [PubMed] [Google Scholar]
  109. Shiseki M., Nishikawa R., Yamamoto H., Ochiai A., Sugimura H., Shitara N., Sameshima Y., Mizoguchi H., Sugimura T., Yokota J. Germ-line p53 mutation is uncommon in patients with triple primary cancers. Cancer Lett. 1993 Sep 15;73(1):51–57. doi: 10.1016/0304-3835(93)90187-e. [DOI] [PubMed] [Google Scholar]
  110. Sidransky D., Tokino T., Helzlsouer K., Zehnbauer B., Rausch G., Shelton B., Prestigiacomo L., Vogelstein B., Davidson N. Inherited p53 gene mutations in breast cancer. Cancer Res. 1992 May 15;52(10):2984–2986. [PubMed] [Google Scholar]
  111. Smith S. A., Easton D. F., Evans D. G., Ponder B. A. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet. 1992 Oct;2(2):128–131. doi: 10.1038/ng1092-128. [DOI] [PubMed] [Google Scholar]
  112. Soussi T., Caron de Fromentel C., May P. Structural aspects of the p53 protein in relation to gene evolution. Oncogene. 1990 Jul;5(7):945–952. [PubMed] [Google Scholar]
  113. Speiser P., Gharehbaghi-Schnell E., Eder S., Haid A., Kovarík J., Nenutil R., Sauter G., Schneeberger C. H., Vojtesek B., Wiltschke C. H. A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies. Br J Cancer. 1996 Jul;74(2):269–273. doi: 10.1038/bjc.1996.350. [DOI] [PMC free article] [PubMed] [Google Scholar]
  114. Sproston A. R., Boyle J. M., Heighway J., Birch J. M., Scott D. Fibroblasts from Li-Fraumeni patients are resistant to low dose-rate irradiation. Int J Radiat Biol. 1996 Aug;70(2):145–150. doi: 10.1080/095530096145139. [DOI] [PubMed] [Google Scholar]
  115. Srivastava S., Tong Y. A., Devadas K., Zou Z. Q., Sykes V. W., Chen Y., Blattner W. A., Pirollo K., Chang E. H. Detection of both mutant and wild-type p53 protein in normal skin fibroblasts and demonstration of a shared 'second hit' on p53 in diverse tumors from a cancer-prone family with Li-Fraumeni syndrome. Oncogene. 1992 May;7(5):987–991. [PubMed] [Google Scholar]
  116. Srivastava S., Zou Z. Q., Pirollo K., Blattner W., Chang E. H. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature. 1990 Dec 20;348(6303):747–749. doi: 10.1038/348747a0. [DOI] [PubMed] [Google Scholar]
  117. Stewart N., Hicks G. G., Paraskevas F., Mowat M. Evidence for a second cell cycle block at G2/M by p53. Oncogene. 1995 Jan 5;10(1):109–115. [PubMed] [Google Scholar]
  118. Stolzenberg M. C., Brugières L., Gardes M., Dessarps-Freichey F., Chompret A., Bressac B., Lenoir G., Bonaïti-Pellié C., Lemerle J., Feunteun J. Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. Oncogene. 1994 Oct;9(10):2799–2804. [PubMed] [Google Scholar]
  119. Strauss E. A., Hosler M. R., Herzog P., Salhany K., Louie R., Felix C. A. Complex replication error causes p53 mutation in a Li-Fraumeni family. Cancer Res. 1995 Aug 1;55(15):3237–3241. [PubMed] [Google Scholar]
  120. Strong L. C., Stine M., Norsted T. L. Cancer in survivors of childhood soft tissue sarcoma and their relatives. J Natl Cancer Inst. 1987 Dec;79(6):1213–1220. [PubMed] [Google Scholar]
  121. Strong L. C., Williams W. R. The genetic implications of long-term survival of childhood cancer. A conceptual framework. Am J Pediatr Hematol Oncol. 1987 Spring;9(1):99–103. doi: 10.1097/00043426-198721000-00017. [DOI] [PubMed] [Google Scholar]
  122. Sun X. F., Johannsson O., Håkansson S., Sellberg G., Nordenskjöld B., Olsson H., Borg A. A novel p53 germline alteration identified in a late onset breast cancer kindred. Oncogene. 1996 Jul 18;13(2):407–411. [PubMed] [Google Scholar]
  123. Toguchida J., Yamaguchi T., Dayton S. H., Beauchamp R. L., Herrera G. E., Ishizaki K., Yamamuro T., Meyers P. A., Little J. B., Sasaki M. S. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. N Engl J Med. 1992 May 14;326(20):1301–1308. doi: 10.1056/NEJM199205143262001. [DOI] [PubMed] [Google Scholar]
  124. Tory K., Brauch H., Linehan M., Barba D., Oldfield E., Filling-Katz M., Seizinger B., Nakamura Y., White R., Marshall F. F. Specific genetic change in tumors associated with von Hippel-Lindau disease. J Natl Cancer Inst. 1989 Jul 19;81(14):1097–1101. doi: 10.1093/jnci/81.14.1097. [DOI] [PubMed] [Google Scholar]
  125. Tsutsui T., Fujino T., Kodama S., Tainsky M. A., Boyd J., Barrett J. C. Aflatoxin B1-induced immortalization of cultured skin fibroblasts from a patient with Li-Fraumeni syndrome. Carcinogenesis. 1995 Jan;16(1):25–34. doi: 10.1093/carcin/16.1.25. [DOI] [PubMed] [Google Scholar]
  126. Varley J. M., Thorncroft M., McGown G., Tricker K., Birch J. M., Evans D. G. A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier. Cancer Genet Cytogenet. 1996 Aug;90(1):14–16. doi: 10.1016/0165-4608(96)00059-3. [DOI] [PubMed] [Google Scholar]
  127. Vogelstein B., Kinzler K. W. Tumour-suppressor genes. X-rays strike p53 again. Nature. 1994 Jul 21;370(6486):174–175. doi: 10.1038/370174a0. [DOI] [PubMed] [Google Scholar]
  128. Williams K. J., Boyle J. M., Birch J. M., Norton J. D., Scott D. Cell cycle arrest defect in Li-Fraumeni Syndrome: a mechanism of cancer predisposition? Oncogene. 1997 Jan 23;14(3):277–282. doi: 10.1038/sj.onc.1200838. [DOI] [PubMed] [Google Scholar]
  129. Williams K. J., Heighway J., Birch J. M., Norton J. D., Scott D. No defect in G1/S cell cycle arrest in irradiated Li-Fraumeni lymphoblastoid cell lines. Br J Cancer. 1996 Sep;74(5):698–703. doi: 10.1038/bjc.1996.424. [DOI] [PMC free article] [PubMed] [Google Scholar]
  130. Yin Y., Tainsky M. A., Bischoff F. Z., Strong L. C., Wahl G. M. Wild-type p53 restores cell cycle control and inhibits gene amplification in cells with mutant p53 alleles. Cell. 1992 Sep 18;70(6):937–948. doi: 10.1016/0092-8674(92)90244-7. [DOI] [PubMed] [Google Scholar]
  131. Yonish-Rouach E., Resnitzky D., Lotem J., Sachs L., Kimchi A., Oren M. Wild-type p53 induces apoptosis of myeloid leukaemic cells that is inhibited by interleukin-6. Nature. 1991 Jul 25;352(6333):345–347. doi: 10.1038/352345a0. [DOI] [PubMed] [Google Scholar]
  132. el-Deiry W. S., Kern S. E., Pietenpol J. A., Kinzler K. W., Vogelstein B. Definition of a consensus binding site for p53. Nat Genet. 1992 Apr;1(1):45–49. doi: 10.1038/ng0492-45. [DOI] [PubMed] [Google Scholar]

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