p53 and hereditary cancer

Subcellular Biochemistry

Volumn 85, Issue , 2014, Pages 1-16

  Merino, Diana ^a,b   Malkin, David ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Cancer genetics; Cancer predisposition; Li Fraumeni syndrome; p53

Indexed keywords

ANIMAL; DISEASE MODEL; FAMILIAL CANCER; GENETIC PREDISPOSITION; GENETICS; HUMAN; MOUSE; NEOPLASM; TUMOR SUPPRESSOR GENE;

ANIMALS; DISEASE MODELS, ANIMAL; GENES, P53; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LI-FRAUMENI SYNDROME; MICE; NEOPLASMS;

EID: 84922392748     PISSN: 03060225     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-94-017-9211-0_1     Document Type: Article

References (80)

1. Achatz M, Hainaut P, Ashton-Prolla P (2009) Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? Lancet Oncol 10: 920-925.
2. Achatz MIW, Olivier M, Le Calvez F et al (2007) The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett 245: 96-102. doi: 10. 1016/j. canlet. 2005. 12. 039.
3. Aury-Landas J, Bougeard G, Castel H et al (2013) Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. Eur J Hum Genet 1-8. doi: 10. 1038/ejhg. 2013. 68.
4. Bachinski LL, Olufemi S-E, Zhou X et al (2005) Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res 65: 427-431.
5. Baker S, Fearon E, Nigro J (1989) Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 244: 217-221.
6. Baker S, Preisinger A, Jessup J (1990) p53 gene mutations occur in combination with 17p allelic deletions as late events in colorectal tumorigenesis. Cancer Res 50: 7717-7722.
7. Barlow J, Mous M, Wiley J et al (2004) Germline BAX alterations are infrequent in Li-Fraumeni syndrome. Cancer Epidemiol Biomarkers Prev 13: 1403-1406.
8. Bell DW, Varley JM, Szydlo TE et al (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286: 2528-2531.
9. Birch J, Hartley A, Tricker K, Prosser J (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54: 1298-1304.
10. Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20: 4621-4628. doi: 10. 1038/sj. onc. 1204621.
11. Bond GL, Hu W, Bond EE et al (2004) A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 119: 591-602.
12. Bond GL, Levine AJ (2007) A single nucleotide polymorphism in the p53 pathway interacts with gender, environmental stresses and tumor genetics to influence cancer in humans. Oncogene 26: 1317-1323.
13. Bougeard G (2006) Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J Med Genet 43: 531-533.
14. Bougeard G, Limacher JM, Martin C et al (2001) 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 38: 253-257.
15. Bougeard G, Sesboue R, Baert-Desurmont S et al (2008) Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 45: 535-538.
16. Brown LT, Sexsmith E, Malkin D (2000) Identiflcation of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. Cancer Genet Cytogenet 123: 65-68.
17. Burt EC, McGown G, Thorncroft M et al (1999) Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. Br J Cancer 80: 9-10. doi: 10. 1038/sj. bjc. 6690313.
18. Chène P (1998) In vitro analysis of the dominant negative effect of p53 mutants. J Mol Biol 281: 205-209. doi: 10. 1006/jmbi. 1998. 1897.
19. Cheng J, Haas M (1990) Frequent mutations in the p53 tumor suppressor gene in human leukemia T-cell lines. Mol Cell Biol 10: 5502-5509. doi: 10. 1128/MCB. 10. 10. 5502. Updated.
20. Chompret A, Abel A, Stoppa-Lyonnet D et al (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38: 43-47.
21. Costa S, Pinto D, Pereira D et al (2008) Importance of TP53 codon 72 and intron 3 duplication 16 bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer 8: 32.
22. Cybulski C, Masojc B, Oszutowska D et al (2008) Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers. Carcinogenesis 29: 762-765. doi: 10. 1093/carcin/bgn044.
23. Diller L, Kassel J, Nelson C (1990) p53 functions as a cell cycle control protein in osteosarcomas. Mol Cell Biol. doi: 10. 1128/MCB. 10. 11. 5772. Updated.
24. Donehower L, Harvey M, Slagle B (1992) Mice deflcient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356(6366): 215-221.
25. Donehower L, Lozano G (2009) 20 years studying p53 functions in genetically engineered mice. Nat Rev Cancer 9: 831-841.
26. Eeles RA (1995) Germline mutations in the TP53 gene. Cancer Surv 25: 101-124.
27. Fang S, Krahe R, Lozano G et al (2010) Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations. PLoS One 5: e10813. doi: 10. 1371/journal. pone. 0010813.
28. Figueiredo BC, Sandrini R, Zambetti GP et al (2006) Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. J Med Genet 43: 91-96. doi: 10. 1136/jmg. 2004. 030551.
29. Garritano S, Gemignani F, Palmero EI et al (2010) 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 31: 143-150.
30. Gemignani F, Moreno V, Landi S et al (2004) A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA. Oncogene 23: 1954-1956. doi: 10. 1038/sj. onc. 1207305.
31. Grochola LF, Zeron-Medina J, Mériaux S, Bond GL (2010) Single-nucleotide polymorphisms in the p53 signaling pathway. Cold Spring Harb Perspect Biol 2: a001032.
32. Harvey M, McArthur M, Montgomery C (1993) Spontaneous and carcinogen-induced tumorigenesis in p53-deflcient mice. Nat Genet 5: 225-229.
33. Hastings PJ, Ira G, Lupski JR (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5: e1000327. doi: 10. 1371/journal. pgen. 1000327.
34. Hastings PJ, Lupski JR, Rosenberg SM, Ira G (2009) Mechanisms of change in gene copy number. Nat Rev Genet 10: 551-564. doi: 10. 1038/nrg2593.
35. Hrstka R, Beranek M, Klocova K et al (2009) Intronic polymorphisms in TP53 indicate lymph node metastasis in breast cancer. Hum Mutat 11951: 1205-1211. doi: 10. 3892/or.
36. Kemp C, Donehower L, Bradley A, Balmain A (1993) Reduction of p53 gene dosage does not increase initiation or promotion but enhances malignant progression of chemically induced skin tumors. Cell 74: 813-822.
37. Kuperwasser C, Hurlbut G (2000) Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice a model for Li-Fraumeni syndrome. Am J Pathol 157: 2151-2159.
38. Lang GA, Iwakuma T, Suh Y-A et al (2004) Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. Cell 119: 861-872.
39. Lavigueur A, Maltby V (1989) High incidence of lung, bone, and lymphoid tumors in transgenic mice overexpressing mutant alleles of the p53 oncogene. Mol Cell Biol 9: 3982-3991. doi: 10. 1128/MCB. 9. 9. 3982. Updated.
40. Li F, Fraumeni J (1969) Soft-tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome? Ann Intern Med 71(4): 747-752.
41. Li F, Fraumeni J, Mulvihill J (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18): 5358-5362.
42. Liu G, McDonnell TJ, de Oca M, Luna R et al (2000) High metastatic potential in mice inheriting a targeted p53 missense mutation. Proc Natl Acad Sci U S A 97: 4174-4179.
43. Liu G, Parant JM, Lang G et al (2004) Chromosome stability, in the absence of apoptosis, is critical for suppression of tumorigenesis in Trp53 mutant mice. Nat Genet 36: 63-68. doi: 10. 1038/ng1282.
44. Lynch H, Mulcahy G, Harris R et al (1978) Genetic and pathologicfindings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma. Cancer 41: 2055-2064.
45. Mai PL, Malkin D, Garber JE et al (2012) Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet 205: 479-487. doi: 10. 1016/j. cancergen. 2012. 06. 008.
46. Malkin D (2011) Li-fraumeni syndrome. Genes Cancer 2: 475-484. doi: 10. 1177/1947601911413466.
47. Malkin D, Li FP, Strong LC et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250: 1233-1238.
48. Marcel V, Hainaut P (2009) P53 isoforms-a conspiracy to kidnap P53 tumor suppressor activity? Cell Mol Life Sci 66: 391-406. doi: 10. 1007/s00018-008-8336-3.
49. Marcel V, Palmero EI, Falagan-Lotsch P et al (2009) TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modiflers in the Li-Fraumeni syndrome: impact on age atfirst diagnosis. J Med Genet 46: 766-772. doi: 10. 1136/jmg. 2009. 066704.
50. Meijers-Heijboer H, van den Ouweland A, Klijn J et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55-59. doi: 10. 1038/ng879.
51. Nichols K, Malkin D, Garber J (2001) Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10: 83-87.
52. Nigro J, Baker S, Preisinger A (1989) Mutations in the p53 gene occur in diverse human tumor types. Nature 342: 705-708.
53. Olive KP, Tuveson DA, Ruhe ZC et al (2004) Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. Cell 119: 847-860. doi: 10. 1016/j. cell. 2004. 11. 004.
54. Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63: 6643-6650.
55. Petitjean A, Achatz MIW, Borresen-Dale AL et al (2007) TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene 26: 2157-2165. doi: 10. 1038/sj. onc. 1210302.
56. Petitjean A, Mathe E, Kato S (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28: 622-629. doi: 10. 1002/humu.
57. Portwine C (2000) Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families. J Med Genet 37(e13): 1-4. doi: 10. 1136/jmg. 37. 8. e13.
58. Quesnel S, Verselis S, Portwine C et al (1999) p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. Oncogene 18: 3970-3978. doi: 10. 1038/sj. onc. 1202783.
59. Rangarajan A, Weinberg RA (2003) Opinion: comparative biology of mouse versus human cells: modelling human cancer in mice. Nat Rev Cancer 3: 952-959. doi: 10. 1038/nrc1235.
60. Ribeiro R, Sandrini F (2001) An inherited p53 mutation that contributes in a tissue-speciflc manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci 98: 9330-9335. doi: 10. 1073/pnas. 161479898.
61. Ruijs MWG, Schmidt MK, Nevanlinna H et al (2007) The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. Eur J Hum Genet 15: 110-114.
62. Ruijs MWG, Verhoef S, Rookus MA et al (2010) TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 47: 421-428.
63. Serrano M, Lin A, McCurrach M et al (1997) Oncogenic ras provokes premature cell senescence associated with accumulation of p53 and p16 INK4a. Cell 88: 593-602.
64. Shaw P, Bovey R, Tardy S et al (1992) Induction of apoptosis by wild-type p53 in a human colon tumor-derived cell line. Proc Natl Acad Sci 89: 4495-4499. doi: 10. 1073/pnas. 89. 10. 4495.
65. Shlien A, Tabori U, Marshall CR et al (2008) Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 105: 11264-11269.
66. Sodha N, Williams R, Mangion J et al (2000) Screening hCHK2 for mutations. Science 289: 359.
67. Stone J, Eeles RA, Sodha N et al (1999) Analysis of Li-Fraumeni syndrome and Li-Fraumenilike families for germline mutations in Bcl10. Cancer Lett 147: 181-185.
68. Tabori U, Nanda S, Druker H et al (2007) Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res 67: 1415-1418. doi: 10. 1158/0008-5472. CAN-06-3682.
69. Tinat J, Bougeard G, Baert-Desurmont S et al (2009) 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27: e108-e109. doi: 10. 1200/JCO. 2009. 22. 7967.
70. Trkova M, Hladikova M, Kasal P et al (2002) Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? J Hum Genet 47: 381-386. doi: 10. 1007/s100380200055.
71. Trkova M, Prochazkova K, Krutilkova V et al (2007) Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. Cancer 110: 694-702. doi: 10. 1002/cncr. 22834.
72. Vahteristo P, Bartkova J, Eerola H et al (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71: 432-438. doi: 10. 1086/341943.
73. Vahteristo P, Tamminen A, Karvinen P et al (2001) p53, CHK 2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 61: 5718-5722.
74. Varley JM, Attwooll C, White G et al (2001) Characterization of germline TP53 splicing mutations and their genetic and functional analysis. Oncogene 20: 2647-2654. doi: 10. 1038/sj. onc. 1204369.
75. Varley JM, Thorncroft M, McGown G et al (1997) A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. Oncogene 14: 865-871.
76. Venkatachalam S, Shi YP, Jones SN et al (1998) Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation. EMBO J 17: 4657-4667.
77. Vousden KH, Ryan KM (2009) P53 and metabolism. Nat Rev Cancer 9: 691-700. doi: 10. 1038/nrc2715.
78. Wang P-Y, Ma W, Park J-Y et al (2013) Increased oxidative metabolism in the Li-Fraumeni syndrome. New Engl J Med 368: 1027-1032. doi: 10. 1056/NEJMoa1214091.
79. Wang Y, Blandino G, Oren M, Givol D (1998) Induced p53 expression in lung cancer cell line promotes cell senescence and differentially modifles the cytotoxicity of anti-cancer drugs. Oncogene 1299: 1923-1930.
80. Wolf D, Rotter V (1985) Major deletions in the gene encoding the p53 tumor antigen cause lack of p53 expression in HL-60 cells. Proc Natl Acad Sci 82: 790-794.