TY - JOUR
T1 - Identification of p53 gene mutations in bladder cancers and urine samples
AU - Sidransky, David
AU - Von Eschenbach, Andrew
AU - Tsai, Yvonne C.
AU - Jones, Peter
AU - Summerhayes, Ian
AU - Marshall, Fray
AU - Paul, Meera
AU - Green, Pearl
AU - Hamilton, Stanley R.
AU - Frost, Philip
AU - Vogelstein, Bert
PY - 1991/5/3
Y1 - 1991/5/3
N2 - Although bladder cancers are very common, little is known about their molecular pathogenesis. In this study, invasive bladder cancers were evaluated for the presence of gene mutations in the p53 suppressor gene. Of 18 tumors evaluated, 11 (61 percent) were found to have genetic alterations of p53. The alterations included ten point mutations resulting in single amino acid substitutions, and one 24-base pair deletion. In all but one case, the mutations were associated with chromosome 17p allelic deletions, leaving the cells with only mutant forms of the p53 gene product. Through the use of the polymerase chain reaction and oligomer-specific hybridization, p53 mutations were identified in 1 to 7 percent of the cells within the urine sediment of each of three patients tested. The p53 mutations are the first genetic alterations demonstrated to occur in a high proportion of primary invasive bladder cancers. Detection of such mutations ex vivo has clinical implications for monitoring individuals whose tumor cells are shed extracorporeally.
AB - Although bladder cancers are very common, little is known about their molecular pathogenesis. In this study, invasive bladder cancers were evaluated for the presence of gene mutations in the p53 suppressor gene. Of 18 tumors evaluated, 11 (61 percent) were found to have genetic alterations of p53. The alterations included ten point mutations resulting in single amino acid substitutions, and one 24-base pair deletion. In all but one case, the mutations were associated with chromosome 17p allelic deletions, leaving the cells with only mutant forms of the p53 gene product. Through the use of the polymerase chain reaction and oligomer-specific hybridization, p53 mutations were identified in 1 to 7 percent of the cells within the urine sediment of each of three patients tested. The p53 mutations are the first genetic alterations demonstrated to occur in a high proportion of primary invasive bladder cancers. Detection of such mutations ex vivo has clinical implications for monitoring individuals whose tumor cells are shed extracorporeally.
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M3 - Article
C2 - 2024123
AN - SCOPUS:0025782858
SN - 0036-8075
VL - 252
SP - 706
EP - 709
JO - Science
JF - Science
IS - 5006
ER -