ATM EXON 24 VARIANT AS A CANCER MARKER

摘要

Pathogenetic allele variants that predispose to a disease can be identified by stratifying affected sib pairs by allele-sharing status at two or more candidate loci. This locus stratification method has been used to identify an allelic variant at the ATM locus which is implicated in breast cancer. The variant is an exon 24 variant with a G for C substitution.