• Eur. J. Clin. Invest. · Feb 1995

    Screening for germline mutations of the p53 gene in familial breast cancer patients.

    • U A Patel, M Perry, and C Crane-Robinson.
    • Biophysics Laboratories, University of Portsmouth, UK.
    • Eur. J. Clin. Invest. 1995 Feb 1; 25 (2): 132-7.

    AbstractThe constitutive DNA from members of four families showing predisposition to breast cancer was amplified by PCR in the region of exons 5, 6, 7 and 8 of the p53 proto-oncogene. Single-strand conformation polymorphism (SSCP) gels were used to compare patient DNA with mutant and wild-type control samples. No cases of anomalous mobility were observed in samples from the susceptible families. The lack of inherited mutations was confirmed for exons 5 and 7 by solid-phase DNA sequencing. The results lend further support to the view that inherited mutations in p53 alleles are not a significant contributor to breast cancer predisposition and it is not, therefore, clinically worthwhile to screen predisposed or potentially predisposed families for germline mutations in the p53 gene.

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