p53 and the Li-Fraumeni syndrome

Cancer Genetics and Cytogenetics

Volumn 66, Issue 2, 1993, Pages 83-92

  Malkin, David ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER SUSCEPTIBILITY; FAMILIAL CANCER; GENE MUTATION; GENE STRUCTURE; GENETIC MODEL; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MOLECULAR CLONING; NONHUMAN; PEDIGREE; PREDICTION; PRIORITY JOURNAL; REVIEW; SARCOMA; TUMOR SUPPRESSOR GENE;

GENES, P53; HUMAN; LI-FRAUMENI SYNDROME; SUPPORT, NON-U.S. GOV'T;

EID: 0027315653     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/0165-4608(93)90233-C     Document Type: Article

References (88)

1. Colorectal cancer genetics
2. Breast cancer genetics
3. Breast cancer risk in mothers of children with osteosarcoma and chondrosarcoma
4. The family history and cancer control: Hereditary breast cancer
5. Cancer families: human models of susceptibility to neoplasia—the Richard and Hinda Rosenthal Foundation Award Lecture
6. Clinical importance of familial cancer
7. Familial cancer in Basel: Some aspects
8. Hereditary cancers disclose a class of cancer genes
9. Mutation and cancer: A model for Wilms' tumor of the kidney
10. Hereditary retinoblastoma: Host resistance and second primary tumors
11. A cancer family syndrome in twenty-four kindreds
12. Soft-tissue sarcomas, breast cancer, and other neoplasms: A familial syndrome?
13. Prospective study of a family cancer syndrome
14. Cancer in survivors of childhood soft tissue sarcoma and their relatives
15. Genetic epidemiology of soft tissue sarcomas in children
16. Surveillance, epidemiology and end results: Incidence and mortality data, 1973–1977
17. Third National Cancer Survey: Incidence data
18. Follow-up study of twenty-four families with Li-Fraumeni syndrome
19. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
20. Homozygous deletion in Wilms tumors of a zinc-finder gene identified by chromosome jumping
21. Tissue, developmental, and tumor-specific expression of divergent transcripts in Wilms tumor
22. Transmission of in vitro radioresistance in a cancer-prone family
23. Oncogenes in radioresistant, noncancerous skin fibroblasts from a cancer-prone family
24. Normal cytotoxic response of skin fibroblasts from patients with Li-Fraumeni cancer syndrome to DNA-damaging agents in vitro
25. Spontaneous abnormalities in normal fibroblasts from patients with Li-Fraumeni cancer syndrome: Aneuploidy and immortalization
26. Tumorigenic transformation of spontaneously immortalized fibroblasts from patients with a familial cancer syndrome
27. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
28. Suppression of malignancy by cell fusion
29. Homozygosity of chromosome 13 in retinoblastoma
30. Mutation and cancer: Statistical study of retinoblastoma
31. The p53 tumor suppressor gene
32. A general theory of carcinogenesis
33. The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13)
34. Characterization of the human p53 gene
35. Two distinct regions of the murine p53 primary amino acid sequence are implicated in stable complex formation with simian virus 40 antigen
36. cdc2 kinase motif
37. Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation
38. Phosphorylation of p53 in normal and simian virus 40-transformed NIH 3T3 cells
39. Structural aspects of the p53 protein in relation to gene evolution
40. Presence of a potent transcription activating sequence in the p53 protein
41. The p53 proto-oncogene can act as a suppressor of transformation
42. p53 functions as a cell cycle control protein in osteosarcomas
43. Suppression of human colorectal carcinoma cell growth by wild-type p53
44. Cellular localization and cell cycle regulation by a temperature-sensitive p53 protein
45. A transcriptionally active DNA-binding site for p53 protein complexes
46. Wild-type p53 can inhibit oncogene-mediated focus formation
47. Wild-type p53 induces apoptosis of myeloid leukemic cells that is inhibited by interleukin-6
48. The p53 tumor suppressor gene
49. Frequency and structure of p53 rearrangements in human osteosarcoma
50. Frequency and diversity of p53 mutations in childhood rhabdomyosarcoma
51. Mutation of the p53-gene in human myelogenous leukemia
52. Mutations of the p53 gene in lymphoid leukemia
53. Detection of p53 gene mutations in human brain tumors by single-strand conformation polymorphism analysis of polymerase chain reaction products
54. p53: A frequent target for genetic abnormalities in lung cancer
55. Mutations in the p53 gene in primary human breast cancers
56. High incidence of lung, bone, and lymphoid tumors in transgenic mice overexpressing mutant alleles of the p53 oncogene
57. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
58. A germ line mutation in exon 5 of the p53 gene in an extended cancer family
59. Identification of a germ-line mutation in the p53 gene in a patient with intracranial ependymoma
60. p53 germline mutations in Li-Fraumeni syndrome
61. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
62. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
63. DNA fragments differing by single base pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory
64. Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
65. Constant denaturant gel electrophoresis, a modification of denaturing gradient gel electrophoresis, in mutation detection
66. Germline mutations of the p53 tumor suppressor gene in children and young adults with second malignant neoplasms
67. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma
68. TP 53 suppressor gene A model for investigating human mutagenesis
69. Mutations in p53 do not account for heritable breast cancer: A study in five affected families
70. No evidence for germline mutations in exons 5–9 of the p53 gene in 25 breast cancer families
71. Screening for germ line TP53 mutations in breast cancer patients
72. Germline mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein
73. Inherited p53 gene mutations in breast cancer
74. Linkage of early-onset familial breast cancer to chromosome 17q21
75. Diseases of the adrenal glands
76. Detection of novel germ-line p53 mutations in diverse cancer prone families identified by selecting patients with childhood adrencortical carcinoma
77. Activating mutants in p53 produce common conformation effects. A monoclonal antibody specific for the mutant form
78. 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
79. Transgenic mice and oncogenesis
80. Targeted expression of the ras and myc oncogenes in transgenic mice
81. Embryonic lethalities and endothelial tumors in chimeric mice expressing polyoma virus middle T oncogene
82. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumors
83. p53 function and dysfunction
84. Recommendations on predictive testing for germline p53 mutations among cancer-prone individuals
85. Determining the efficacy of breast cancer screening
86. Potential role of tamoxifen in prevention of breast cancer