Two Li-Fraumeni syndrome families with novel germline p53 mutations: Loss of the wild-type p53 allele in only 50% of tumours

British Journal of Cancer

Volumn 77, Issue 7, 1998, Pages 1034-1039

  Sedlacek, Z ^a,b   Kodet, R ^a   Kriz, V ^a   Seemanova, E ^a   Vodvarka, P ^c   Wilgenbus, P ^b   Mares, J ^a   Poustka, A ^b   Goetz, P ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Germline p53 mutation; Li Fraumeni syndrome; Loss of heterozygosity; p53 immunohistochemistry

Indexed keywords

ALANINE; MUTANT PROTEIN; PROLINE; PROTEIN P53;

ADRENAL CORTEX TUMOR; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; BREAST CANCER; CHOROID PLEXUS; CHOROID PLEXUS TUMOR; DELETION MUTANT; EXON; FAMILIAL CANCER; GERM LINE; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CARCINOMA; POINT MUTATION; PRIORITY JOURNAL; RHABDOMYOSARCOMA;

EID: 0031905739     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/bjc.1998.172     Document Type: Article

References (30)

1. Baas F, Bikker H, van Ommen GJB and Vijlder JJM (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of defective thyroglobulin allele. Hum Genet 67: 301-305
2. Banerjee SK, Makdisi WF, Weston AP, Mitchell SM and Campbell DR (1995) Microwave-based DMA extraction from paraffin-embedded tissue for PCR amplification. Bio Techniques 18: 768-773
3. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Morris Jones PM, Binchy A, Crowther D, Craft AW, Eden OB, Evans GR, Thompson E, Mann JR, Martin J, Mitchell ELD and Santibanez-Koref MF (1994a) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54: 1298-1304
4. Birch JM, Heighway J, Teare MD, Kelsey AM, Hartley AL, Tricker KJ, Crowther D, Lane DP and Santibanez-Koref MF (1994b) Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53. Br J Cancer 70: 1176-1181
5. Carothers AM, Urlaub G, Mucha D, Grunberger D and Chasin LA (1989) Point mutation analysis in a mammalian gene: rapid preparation of total RNA, PCR amplification of cDNA and Taq sequencing by a novel method. Biotechniques 7: 494-199
6. Cho Y, Gorina S, Jeffrey PD and Pavletich NP (1994) Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. Science 265: 346-355
7. De Vries EMG, Ricke DO, De Vries TN, Hartmann A, Blaszyk H, Liao D, Soussi T, Kovach JS and Sommer SS (1996) Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. Hum Mutai 7: 202-213
8. Eeles RA (1995) Germline mutations in the TP53 gene. Cancer Surveys 25: 101-124
9. Felix CA, Strauss EA, D'Amico D, Tsokos M, Winter S, Mitsudomi T, Nau MM, Brown DL, Leahey AM, Horowitz ME, Poplack DG, Costin D and Minna JD (1993) A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene 8: 1203-1210
10. Frebourg T, Barbier N, Yan Y, Garber J, Dreyfus M, Fraumeni J, Li FP and Friend SH (1995) Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 56: 608-615
11. Greenblatt MS, Grollman AP and Harris CC (1996) Deletions and insertions in the p53 tumor suppressor gene in human cancers: confirmation of the DNA polymerase slippage/misalignment model. Cancer Res 56: 2130-2136
12. Hollstein M, Shomer B, Greenblatt MS, Soussi T, Hovig E, Montesano R and Harris CC (1996) Somatic point mutations in the p53 gene of human tumors and cell lines: update compilation. Nucleic Acids Res 24: 141-146
13. Horio Y, Suzuki H, Ueda R, Koshikawa T, Sugiura T, Ariyoshi Y, Shimokata K and Takahashi T (1994) Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. Oncogene 9: 1231-1235
14. Kyritsis AP, Bondy ML, Xiao M, Herman EL, Cunningham JE, Lee PS, Levin VA and Soya H (1994) Germline p53 gene mutations in subsets of glioma patients. J Natl Cancer Inst 86: 344-349
15. Li FP and Fraumeni JF (1969) Soft-tissue sarcomas, breast cancer and other neoplasms: a familial syndrome? Ann Intern Med 71: 747-752
16. Li FP and Fraumeni JF (1994) Collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. Cancer Epidemiol Biomarkers Prev 3: 715-717
17. Li FP, Fraumeni JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA and Miller RW (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48: 5358-5362
18. Li FP, Garber JE, Friend SH, Strong LC, Patenaude AF, Juengst ET, Reilly PR, Correa P and Fraumeni JF (1992) Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Nalt Cancer Inst 84:1156-1160
19. Malkin D (1994) p53 and the Li-Fraumeni syndrome. Biochim Biophys Acta 1198: 197-213
20. Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA and Friend SH (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science 250: 1233-1238
21. Malkin D, Jolly KW, Barbier N, Look TA, Friend SH, Gebhardt MC, Andersen TI, Borresen AL, Li FP, Garber J and Strong LC ( 1992) Germline mutations of the p53 tumour-suppressor gene in children and young adults with second malignant neoplasms. New Engl J Med 20: 1309-1315
22. Soussi T and May P (1996) Structural aspects of the p53 protein in relation to gene evolution: a second look. J Mol Biol 260: 623-637
23. Srivastava S, Zou Z, Pirollo K, Blattner W and Chang EH (1990) Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348: 747-749
24. Stolzenberg MC, Brugieres L, Gardes M, Dessarps-Freichey F, Chompret A, Bressac B, Lenoir G, Bonaiti-Pellie C, Lamerle J and Feunteun J (1994) Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. Oncogene 9: 2799-2804
25. Symington T (1982) The adrenal cortex. In Endocrine Pathology, General and Surgical. 2nd edn, Bloodworth JMB Jr. (ed.), p. 101. Williams & Wilkins: Baltimore
26. Toguchhida J, Toshikazu Y, Daylon SH, Beauchamp RL, Herrera GE, Ishizaki K, Yamamuro T, Meyers PA, Little JB, Sasaki MS, Weichselbaum RR and Yandell DW (1992) Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. New Engl J Med 326: 1301-1308
27. van Slooten H, Schaberg A, Smeenk D and Moolenaar AJ (1985) Morphologic characteristics of benign and malignant adrenocortical tumors. Cancer 55: 766-773
28. Varley JM, Thorncroft M, McGown G, Appleby J, Kelsey AM, Tricker KJ, Evans DGR and Birch JM (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
29. Wang Q, Lasset C, Sobol H and Ozturk M (1996) Evidence of a hereditary p53 syndrome in cancer-prone families. Int J Cancer 65: 554-557
30. Weiss LM (1984) Comparative histologic study of 43 metastasizing and nonmetasfasizing adrenocortical tumors. Am J Surg Pathol 8: 163-169