The Li-Fraumeni syndrome

Biochimie

Volumn 84, Issue 1, 2002, Pages 75-82

  Chompret, Agnès ^a  

^a INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

Germline CHK2 mutation; Germline TP53 mutation; Li Fraumeni syndrome

Indexed keywords

5 METHYLCYTOSINE; APC PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; COMPLEMENTARY DNA; DNA BINDING PROTEIN; PROTEIN P53; RNA;

ADULT; AGE; ALLELE; BREAST CANCER; BREAST TUMOR; CANCER CLASSIFICATION; CANCER RADIOTHERAPY; CANCER RISK; CANONICAL ANALYSIS; CHILD; CODON; DISEASE CARRIER; DOMINANT INHERITANCE; ETHICS; EXON; FAMILIAL CANCER; FAMILY COUNSELING; FIBROBLAST; GENE DELETION; GENE INACTIVATION; GENE LOCATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HETEROZYGOSITY LOSS; HUMAN; LYMPHOCYTE; NONHUMAN; PSYCHOLOGICAL ASPECT; REVIEW; SARCOMA; SEX DIFFERENCE; TUMOR SUPPRESSOR GENE; WILD TYPE;

EID: 0036255776     PISSN: 03009084     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0300-9084(01)01361-X     Document Type: Article

References (95)

1. Cytogenetic studies in human malignant disease
2. Genealogy of cancer in a family
3. Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma
4. Rhabdomyosarcoma in children: Epidemiologic study and identification of a familial cancer syndrome
5. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?
6. Excess risk of breast cancer in the mothers of children with soft tissue sarcomas
7. Cancer in survivors of childhood soft tissue sarcoma and their relatives
8. Cancer in the families of children with soft tissue sarcoma
9. A cancer family syndrome in twenty four kindreds
10. Patterns of cancer in the families of children with soft tissue sarcoma
11. Wilms' tumor in the Li-Fraumeni cancer family syndrome
12. Are germ cell tumors part of the Li-Fraumeni cancer family syndrome?
13. SBLA syndrome revisited
14. Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients
15. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
16. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
17. A germ line mutation in exon 5 of the p53 gene in an extended cancer family
18. Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactive the p53 protein
19. Screening patients for heterozygous p53 mutations using a functional assay in yeast
20. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours
21. Spontaneous and carcinogen-induced tumorigenesis in p53-deficient mice
22. Tumor spectrum analysis in p53-mutant mice
23. Relative frequency and morphology of cancers in carriers of germline TP53 mutations
24. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers
25. Evidence of a hereditary p53 syndrome in cancer-prone families
26. Choroid plexus tumors in the breast cancer-sarcoma syndrome
27. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
28. Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer
29. Germ-line mutations of TP53 in Li-Fraumeni families: An extended study of 39 families
30. p53 germline mutations in childhood cancers and cancer risk for carrier individuals
31. Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma
32. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma
33. High frequency of germline p53 mutations in childhood adrenocortical cancer
34. A inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
35. Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma
36. Incidence of germ-line p53 mutations in patients with gliomas
37. Germline p53 mutations in subsets of glioma patients
38. Screening for germ line TP53 mutations in breast cancer patients
39. Sensitivity and predictive value of criteria for p53 germline mutation
40. Constitutional p53 mutation in a non-Li-Fraumeni cancer family
41. Inherited p53 gene mutations in breast cancer
42. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms
43. Germ-line p53 mutation is uncommon in patients with triple primary cancers
44. Li-Fraumeni syndrome - A molecular and clinical review
45. The p53 protein and its interactions with the oncogene products of the small DNA tumor viruses
46. Cancer: p53, guardian of the genome
47. Wild-type p53 is a cell cycle checkpoint determinant following irradiation
48. New insights into p53 function from structural studies
49. 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
50. A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome
51. Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family
52. Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome
53. Mechanism of functional inactivation of a Li-Fraumeni syndrome p53 that has mutation outside of the DNA-binding domain
54. IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines. International Agency for Research on Cancer
55. p53 gene mutation: Software and database
56. Complex replication error causes p53 mutation in a Li-Fraumeni family
57. A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm
58. Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer
59. Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family
60. Novel p53 splice site mutations in three families with Li-Fraumeni syndrome
61. Characterization of germline TP53 splicing mutations and their genetic and functional analysis
62. Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation
63. Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family
64. A possible screening test for inherited p53-related defects based on the apoptotic response of peripheral blood lymphocytes to DNA damage
65. A simple p53 functional assay for screening cell lines, blood, and tumors
66. Two Li-Fraumeni syndrome families with novel germline p53 mutations: Loss of the wild-type p53 allele in only 50% of tumours
67. 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
68. Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome
69. An oncogenic form of p53 confers a dominant, gain-of-function phenotype that disrupts spindle checkpoint control
70. Functional analyses of a unique p53 germline mutant (Y236delta) associated with a familial brain tumor syndrome
71. Retention of wild-type p53 in tumors from p53 heterozygous mice: Reduction of p53 dosage can promote cancer formation
72. A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene
73. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome
74. Spontaneous abnormalities in normal fibroblasts from patients with Li-Fraumeni cancer syndrome: Aneuploidy and immortalization
75. Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families
76. Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts
77. 1 arrest and chromosome aberrations in Li-Fraumeni fibroblasts with or without germline TP53 mutations
78. Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2
79. Dissociation between cell cycle arrest and apoptosis can occur in Li-Fraumeni cells heterozygous for p53 gene mutations
80. Multiple primary cancers in families with Li-Fraumeni syndrome
81. Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors
82. Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations
83. A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors
84. Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method
85. p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree
86. A patient with 17 primary tumours and a germ line mutation in TP53: Tumour induction by adjuvant therapy?
87. Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome
88. Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53
89. Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family
90. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
91. Screening hCHK2 for mutations
92. Characterization of tumor-associated Chk2 mutations
93. C.H.K. p, CHK1 genes in Finnish families with Li-Fraumeni syndrome: Further evidence of CHK2 in inherited cancer predisposition
94. 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
95. Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome