MLL3 GERMLINE BREAST CANCER BIOMARKERS AND USES THEREOF

摘要

A germline mutation located at human chromosome 7 is identified that provides a biomarker for human familial breast cancer. The biomarker is an MLL3 gene single point mutation located at an exon region, one of the single point mutation sites being located at exon 15 (position 2645, T to C) and a second single point mutation site being located at exon 16 (position 2726, G to A). The MLL3 gene mutations are Exon 15 c.T2645Cp.I882T and Exon 16 c.G2726Ap.R909K. The biomarkers are demonstrated to have a higher incidence in familial breast cancer patients compared to BRCA1 and BRCA2. Methods of identifying and treating a patient having familial breast cancer using the MLL3 gene exon mutations germline biomarker are also provided, as well as methods for identifying pharmaceutical agents for use in treating familial forms of human breast cancer.