메뉴 건너뛰기




Volumn 245, Issue 1-2, 2007, Pages 96-102

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

Author keywords

151623 (LFS); Adrenocortical carcinomas; Database: http: www p53.iarc.fr; GenBank: X54156; Germline mutations; IARC TP53; Li Fraumeni; OMIM: 191170 (TP53); p53; R337H; TP53

Indexed keywords

ADRENAL CORTEX CARCINOMA; ADRENAL CORTEX TUMOR; ADULT; ALLELE; ARTICLE; BRAIN CANCER; BRAZIL; BREAST CANCER; BREAST CARCINOGENESIS; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GERM LINE; HETEROZYGOSITY LOSS; HUMAN; PRIORITY JOURNAL; SOFT TISSUE SARCOMA; TUMOR SUPPRESSOR GENE;

EID: 33845645820     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.canlet.2005.12.039     Document Type: Article
Times cited : (158)

References (20)
  • 1
    • 0014654544 scopus 로고
    • Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome
    • Li F.P., and Fraumeni Jr. J.F. Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J. Natl Cancer Inst. 43 (1969) 1365-1373
    • (1969) J. Natl Cancer Inst. , vol.43 , pp. 1365-1373
    • Li, F.P.1    Fraumeni Jr., J.F.2
  • 2
    • 0035797528 scopus 로고    scopus 로고
    • Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    • Birch J.M., Alston R.D., McNally R.J., Evans D.G., Kelsey A.M., Harris M., et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20 (2001) 4621-4628
    • (2001) Oncogene , vol.20 , pp. 4621-4628
    • Birch, J.M.1    Alston, R.D.2    McNally, R.J.3    Evans, D.G.4    Kelsey, A.M.5    Harris, M.6
  • 4
    • 0028220688 scopus 로고
    • Prevalence and diversity of constitutional mutations in the p53 gene among 21 li-fraumeni families
    • Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A., Kelsey A.M., et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 li-fraumeni families. Cancer Res. 54 (1994) 1298-1304
    • (1994) Cancer Res. , vol.54 , pp. 1298-1304
    • Birch, J.M.1    Hartley, A.L.2    Tricker, K.J.3    Prosser, J.4    Condie, A.5    Kelsey, A.M.6
  • 5
    • 0029558570 scopus 로고
    • Germline mutations in the TP53 gene
    • Eeles R.A. Germline mutations in the TP53 gene. Cancer Surv. 25 (1995) 101-124
    • (1995) Cancer Surv. , vol.25 , pp. 101-124
    • Eeles, R.A.1
  • 6
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    • Malkin D., Li F.P., Strong L.C., Fraumeni Jr. J.F., Nelson C.E., Kim D.H., et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250 (1990) 1233-1238
    • (1990) Science , vol.250 , pp. 1233-1238
    • Malkin, D.1    Li, F.P.2    Strong, L.C.3    Fraumeni Jr., J.F.4    Nelson, C.E.5    Kim, D.H.6
  • 8
    • 0142157701 scopus 로고    scopus 로고
    • Li-fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype
    • Olivier M., Goldgar D.E., Sodha N., Ohgaki H., Kleihues P., Hainaut P., and Eeles R.A. Li-fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 63 (2003) 6643-6650
    • (2003) Cancer Res. , vol.63 , pp. 6643-6650
    • Olivier, M.1    Goldgar, D.E.2    Sodha, N.3    Ohgaki, H.4    Kleihues, P.5    Hainaut, P.6    Eeles, R.A.7
  • 10
    • 0034750121 scopus 로고    scopus 로고
    • An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors
    • Latronico A.C., Pinto E.M., Domenice S., Fragoso M.C., Martin R.M., Zerbini M.C., et al. An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J. Clin. Endocrinol. Metab. 86 (2001) 4970-4973
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 4970-4973
    • Latronico, A.C.1    Pinto, E.M.2    Domenice, S.3    Fragoso, M.C.4    Martin, R.M.5    Zerbini, M.C.6
  • 11
    • 0036143771 scopus 로고    scopus 로고
    • A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer
    • DiGiammarino E.L., Lee A.S., Cadwell C., Zhang W., Bothner B., Ribeiro R.C., et al. A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. Nat. Struct. Biol. 9 (2002) 12-16
    • (2002) Nat. Struct. Biol. , vol.9 , pp. 12-16
    • DiGiammarino, E.L.1    Lee, A.S.2    Cadwell, C.3    Zhang, W.4    Bothner, B.5    Ribeiro, R.C.6
  • 12
    • 0026785914 scopus 로고
    • Germline mutations in the p53 tumour suppressor gene: scientific, clinical and ethical challenges
    • Birch J.M. Germline mutations in the p53 tumour suppressor gene: scientific, clinical and ethical challenges. Br. J. Cancer 66 (1992) 424-426
    • (1992) Br. J. Cancer , vol.66 , pp. 424-426
    • Birch, J.M.1
  • 14
    • 33845631332 scopus 로고    scopus 로고
    • R.A. Eeles, Germline mutations in the TP53 gene in Breast and Other Cancers, Thesis, University of London, 2000.
  • 15
    • 0016178453 scopus 로고
    • Single-step separation of red blood cells. Granulocytes and mononuclear leukocytes on discontinuous density gradients of Ficoll-Hypaque
    • English D., and Andersen B.R. Single-step separation of red blood cells. Granulocytes and mononuclear leukocytes on discontinuous density gradients of Ficoll-Hypaque. J. Immunol. Methods 5 (1974) 249-252
    • (1974) J. Immunol. Methods , vol.5 , pp. 249-252
    • English, D.1    Andersen, B.R.2
  • 16
    • 23444431651 scopus 로고    scopus 로고
    • Arrayed primer extension resequencing of mutations in the TP53 tumor suppressor gene: comparison with denaturing HPLC and direct sequencing
    • Le Calvez F., Ahman A., Tonisson N., Lambert J., Temam S., Brennan P., et al. Arrayed primer extension resequencing of mutations in the TP53 tumor suppressor gene: comparison with denaturing HPLC and direct sequencing. Clin. Chem. 51 (2005) 1284-1287
    • (2005) Clin. Chem. , vol.51 , pp. 1284-1287
    • Le Calvez, F.1    Ahman, A.2    Tonisson, N.3    Lambert, J.4    Temam, S.5    Brennan, P.6
  • 17
    • 0037816165 scopus 로고    scopus 로고
    • Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis
    • Kato S., Han S.Y., Liu W., Otsuka K., Shibata H., Kanamaru R., and Ishioka C. Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc. Natl Acad. Sci. USA 100 (2003) 8424-8429
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 8424-8429
    • Kato, S.1    Han, S.Y.2    Liu, W.3    Otsuka, K.4    Shibata, H.5    Kanamaru, R.6    Ishioka, C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.