| 摘要 |
A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of : (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene 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 samp le sequence and the wild type sequence signifies that the individual is pre- disposed to having the cancer; and wherein the difference comprises a specified variation. The specified variation can be the known mutation in th e human MYH protein, G382D-hMYH or a nucleotide sequence encoding it, or it ca n be one or more novel variations, namely, Y165C, E466X, and Y90X, or the respective corresponding nucleotide sequences. The method is particularly suitable for determining a pre-disposition towards bowel cancer. |
