According to the present invention, there is provided a method of testing a subject to determine if the subject has a predisposition for developing primary or bilateral breast cancer which includes the steps of detecting a mutation in the open reading frame of the ATM gene (SEQ.ID.NO: 1) in a cDNA sample from the subject, in a genomic DNA sample from the subject, which mutation is selected from the group consisting of the mutations set forth in Table 4 and Table 5; or detecting a mutation in the mRNA corresponding to the open reading frame of the ATM gene (SEQ.ID.NO: 1) in a mRNA sample from the subject, which mutation is selected from the group consisting essentially of RNA complementary to the mutations set forth in Table 4 and Table 5, wherein the presence of such a mutation indicates that the subject has a predisposition for developing primary or bilateral breast cancer. Also provided is an isolated cDNA having a nucleotide sequence which differs from the sequence set forth in SEQ.ID.NO: 1 by including a mutation selected from the group consisting essentially of mutations in position 378 T-A, position 3383 A-G, position 1636 C-G, position 2614 C-T, position 6437 G-C, position 2932 T-C, position 2289 T-A, position 6096 A-T, position 6176 C-T, position 6919 C-T, position 3925 G-A, position 6067 G-A, position 2119 T-C, position 1810 C-T, and position 4388 T-G. A marker for determining a predisposition for breast cancer is also provided.
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