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  • Title: Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method.
    Author: Giunta C, Youil R, Venter D, Chow CW, Somers G, Lafferty A, Kemper B, Cotton RG.
    Journal: Diagn Mol Pathol; 1996 Dec; 5(4):265-70. PubMed ID: 8955618.
    Abstract:
    The p53 tumor suppressor gene is the most commonly altered gene in human cancers. Germline mutations in p53 are the genetic alteration underlying predisposition to multiple cancers in Li-Fraumeni syndrome and Li-Fraumeni-like syndrome. We describe a patient who presented with developed adrenocortical carcinoma at age 19 months and a cerebral primitive neuroectodermal tumor at age 5 years. The patient did not have a family history of cancer. We used the enzyme mismatch cleavage (EMC) method to screen for mutations in the p53 gene and found a germline mutation in exon 7 (codon 248). Loss of heterozygosity analysis in one tumor revealed loss of the wild-type p53 allele. In our report we demonstrate the EMC method to be a rapid and sensitive method for mutation detection.
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