Sensitivity and predictive value of criteria for p53 germline mutation screening [1]

Journal of Medical Genetics

Volumn 38, Issue 1, 2001, Pages 43-47

  Chompret, A ^a   Abel, A ^a   Stoppa Lyonnet, D ^a   Brugieres L ^a   Pages S ^a   Feunteun, J ^a   Bonaiti Pellie C ^a  

^a INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53;

ADULT; CANCER RISK; DIAGNOSTIC VALUE; FAMILIAL CANCER; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MAJOR CLINICAL STUDY; PREDICTION; PRIORITY JOURNAL;

EID: 0035133356     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.1.43     Document Type: Letter

References (53)

1. Cancer families
2. Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma
3. Rhabdomyosarcoma in children: Epidemiologic study and identification of a cancer family syndrome
4. Excess risk of breast cancer in the mothers of children with soft tissue sarcomas
5. Cancer in survivors of childhood soft tissue sarcoma and their relatives
6. Cancer in families of children with soft tissue sarcomas
7. Soft tissue sarcomas, breast cancer and other neoplasms: A familial syndrome?
8. Prospective study of a cancer family syndrome
9. Two families with the Li-Fraumeni cancer family syndrome
10. A cancer family syndrome in twenty-four kindreds
11. Follow-up study of twenty-four families with Li-Fraumeni syndrome
12. Malignant melanoma in families of children with osteosarcoma, chondrosarcoma and adrenal cortical carcinoma
13. Are germ cell tumours part of the Li-Fraumeni syndrome?
14. Wilms' tumor in the Li-Fraumeni cancer family syndrome
15. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53
16. Germline mutations of TP53 in Li-Fraumeni families: An extended study of 39 families
17. Germline p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms
18. Germline transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
19. Li-Fraumeni syndrome - A molecular and clinical review
20. Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer
21. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
22. Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53
23. Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome
24. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
25. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma
26. A significant proportion of patient with osteosarcoma may belong to Li-Fraumeni cancer families
27. Germ-line and somatic p53 mutations in multifocal osteosarcoma
28. Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma
29. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma
30. High frequency of germline p53 mutations in childhood adrenocortical cancer
31. Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors
32. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms
33. Germ-line p53 mutation is uncommon in patients with triple primary cancers
34. Secondary breast cancer in patients presenting with osteosarcoma: Possible involvement of germline p53 mutations
35. TP53 gene mutations and 17q deletions in human astrocytomas
36. Germline p53 mutations in subsets of glioma patients
37. Constitutional p53 mutations associated with brain tumors in young adults
38. p53 gene mutations in pediatric brain tumors
39. Incidence of germ-line p53 mutations in patients with gliomas
40. Screening for germ line TP53 mutations in breast cancer patients
41. Constitutional p53 mutations in a non Li-Fraumeni cancer family
42. Inherited p53 gene mutations in breast cancer
43. No evidence for germline mutations in exons 5-9 of the p53 gene in 25 breast cancer families
44. Germline mutations in the TP53 gene
45. Prevalence of p53 germline mutations in childhood cancer and estimation of cancer risk for carrier individuals
46. Testing for germline p53 mutations in cancer families
47. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals
48. Predictive testing for germline mutations in the p53 gene: Are all the questions answered?
49. Collaborative interdisciplinary studies of p53 and other predisposing mutations in Li-Fraumeni syndrome
50. Third international workshop on collaborative interdisciplinary studies of p53 and other predisposing mutations in Li-Fraumeni syndrome
51. Screening patients for heterozygous p53 mutations using a functional assay in yeast
52. A simple p53 functional assay for screening cell lines, blood, and tumors
53. Efficient screening of p53 mutations by denaturing gradient gel electrophoresis in colorectal tumors