Diagnostic assay for breast cancer susceptibility

摘要

The lifetime probability of a woman developing breast cancer can now be determined based on an allelic variation found in the 3′UTR of the prohibitin gene. The probability is dependent on the sequence of the 3′UTR at position 729, i.e., whether there is a thymine (T) or a cytosine (C) or both at this position. Polymorphism at position 729 is also disclosed as a susceptibility indicator for hereditary breast cancer in men. Determining the sequence at the position 729 can be done by any number of standard techniques. Preferably, the sequence is determined by amplifying this region by PCR and subjecting it to an RFLP analysis.