• US 20080213784A1
  • Filed: 03/14/2008
  • Published: 09/04/2008
  • Est. Priority Date: 08/03/2001
  • Status: Active Grant
First Claim
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1. A screening method for identifying an individual having a predisposition towards having a cancer, which screening method comprises the steps of:

  • (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene in a base excision repair (BER) pathway of the individual or an amino acid sequence of a polypeptide expressed thereby; and

    (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence,whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer;

    wherein the difference comprises a variant of hMYH, said variant comprising a polypeptide variant selected from the group consisting of;

    (a) Y165C [SEQ ID NO;


    (b) E466X [SEQ ID NO;


    (c) Y90X [SEQ ID NO;


    (d) a nucleotide sequence encoding Y165C, E466X, or Y90X;

    (e) a sequence substantially homologous to or that hybridizes to Y165C, E466X, or Y90X under stringent conditions;

    (f) a sequence substantially homologous to or that hybridizes under stringent conditions to the sequence (d) or (e) but for the degeneracy of the genetic code;

    (g) an oligonucleotide specific for any of the sequences (d), (e) or (f); and

    (h) G382D-hMYH or a nucleotide sequence encoding it.

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