Germline Mutations of the p53 Tumor-Suppressor Gene in Children and Young Adults with Second Malignant Neoplasms

New England Journal of Medicine

Volumn 326, Issue 20, 1992, Pages 1309-1315

  Malkin, David ^a   Jolly, Kent W ^b   Barbier, Noële ^a   Look, A Thomas ^b   Friend, Stephen H ^a,c   Gebhardt, Mark C ^c   Andersen, Tone I ^d   Børresen, Anne Lise ^d   li, Frederick P ^e   Garber, Judy ^e   Strong, Louise C ^f  

^a MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e DANA FARBER CANCER INSTITUTE   (United States)

^f UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN P53;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANAMNESIS; ARTICLE; CANCER RISK; CHILD; CHILDHOOD CANCER; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENE SEQUENCE; GERM LINE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SECOND CANCER; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CASE REPORT; CHILD; DNA; EXONS; FEMALE; GENES, P53; HUMAN; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASMS, SECOND PRIMARY; NEOPLASTIC SYNDROMES, HEREDITARY; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0026530299     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199205143262002     Document Type: Article

References (38)

1. McBride OW, Merry D, Givol D. The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17pl3). Proc Natl Acad Sci U S A 1986; 83: 130–4.
2. Isobe M, Emanuel BS, Givol D, Oren M, Croce CM. Localization of gene for human p53 tumour antigen to band 17pl3. Nature 1986; 320: 84–5.
3. Harlow E, Williamson NM, Ralston R, Helfman DM, Adams TE. Molecular cloning and in vitro expression of a cDNA clone for human cellular tumor antigen p53. Mol Cell Biol 1985; 5: 1601–10.
4. Diller L, Kassel J, Nelson CE, et al. p53 Functions as a cell cycle control protein in osteosarcomas. Mol Cell Biol 1990; 10: 5772–81.
5. Baker SJ, Markowitz S, Fearon ER, Willson JKV, Vogelstein B. Suppression of human colorectal carcinoma cell growth by wild-type p53. Science 1990; 249: 912–5.
6. Finlay CA, Hinds PW, Levine AJ. The p53 proto-oncogene can act as a suppressor of transformation. Cell 1989; 57: 1083–93.
7. Lamb P, Crawford L. Characterization of the human p53 gene. Mol Cell Biol 1986; 6: 1379–85.
8. Nigro JM, Baker SJ, Preisinger achéal, et al. Mutations in the p53 gene occur in diverse tumour types. Nature 1989; 342: 705–8.
9. Hollstein M, Sidransky D, Vogelstein B, Harris CC. p53 Mutations in human cancers. Science 1991; 253: 49–53.
10. Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990; 250: 1233–8.
11. Srivastava S, Zou ZQ, Pirollo K, Blattner WA, Chang EH. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li—Fraumeni syndrome. Nature 1990; 348: 747–9.
12. Li FP, Fraumeni JF Jr. Prospective study of a family cancer syndrome. JAMA 1982; 247: 2692–4.
13. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res 1988; 48: 5358–62.
14. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome? Ann Intern Med 1969; 71: 747–52.
15. Li Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 1969; 43: 1365–73.
16. Young JL Jr, Perry CL, Asire AJ, eds. Surveillance, epidemiology, and end results: incidence and mortality data, 1973–1977. National Cancer Institute monograph 57. Washington, D.C.: Government Printing Office, 1977:70–3.
17. Williams WR, Strong LC. Genetic epidemiology of soft tissue sarcomas in children. In: Müller H, Weber W, eds. Familial cancer. Basel, Switzerland: S. Karger, 1985:151–3.
18. Strong LC, Stine M, Norsted TL. Cancer in survivors of childhood soft tissue sarcoma and their relatives. J Natl Cancer Inst 1987; 79: 1213–20.
19. Burke E, Li FP, Janov AJ, Batter S, Grier H, Goorin A. Cancer in relatives of survivors of childhood sarcoma. Cancer 1991; 67: 1467–9.
20. de Vathaire F, Schweisguth O, Rodary C, et al. Long-term risk of second malignant neoplasm after a cancer in childhood. Br J Cancer 1989; 59: 448–52.
21. Meadows AT. Follow-up and care of childhood cancer survivors. Hosp Pract [Off] 1991; 26(2):99–I02, 105–8.
22. Børresen A-L, Hovig E, Smith-Sørensen B, et al. Constant denaturant gel electrophoresis as a rapid screening technique for p53 mutations. Proc Natl Acad Sci U S A 1991; 88: 8405–9.
23. Fischer SG, Lerman LS. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci U S A 1983; 80: 1579–83.
24. Hovig E, Smith-Sørensen B, Brøgger A, Børresen A-L. Constant denaturant gel electrophoresis, a modification of denaturing gradient gel electrophoresis, in mutation detection. Mutat Res 1991; 262: 63–71.
25. Erratum, Mutat Res 1991; 263: 61.
26. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991; 253: 665–9.
27. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971; 68: 820–3.
28. Hartley AL, Birch JM, Kelsey AM, Marsden HB, Harris M, Teare MD. Are germ cell tumors part of the Li-Fraumeni cancer family syndrome? Cancer Genet Cytogenet 1989; 42: 221–6.
29. Soussi T, Caron de Fromentel C, May P. Structural aspects of the p53 protein in relation to gene evolution. Oncogene 1990; 5: 945–52.
30. Baker SJ, Fearon ER, Nigro JM, et al. Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 1989; 244: 217–21.
31. Farrell PJ, Allan GJ, Shanahan F, Vousden KH, Crook T. p53 is frequently mutated in Burkitt's lymphoma cell lines. EMBO J 1991; 10: 2879–87.
32. Friend SH, Bernards R, Rogelj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986; 323: 643–6.
33. Cavenee WK, Dryja TP, Phillips RA, et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 1983; 305: 779–84.
34. Yandell DW, Campbell TA, Dayton SH, et al. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med 1989; 321: 1689–95.
35. Draper GJ, Sanders BM, Kingston JE. Second primary neoplasms in patients with retinoblastoma. Br J Cancer 1986; 53: 661–71.
36. Wiggs J, Nordenskjöld M, Yandell D, et al. Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N Engl J Med 1988; 318: 151–7.
37. Levine AJ, Momand J, Finlay CA. The p53 tumour suppressor gene. Nature 1991; 351: 453–6.
38. Toguchida J, Yamaguchi T, Herrera G, Beauchamp R, Yandell DW. A survey of germ-line and somatic p53 gene mutations in patients with bone and soft tissue sarcomas. Am J Hum Genet 1991; 49: Suppl: 458. abstract.