Screening of BRCA1 sequence variants within exon 11 by heteroduplex analysis

Germ-line mutations of either BRCA1 or BRCA2 represents the major hereditary risk to breast and ovarian cancer. Screening for mutations in these genes is now standard practice in molecular diagnosis, opening the way to oncogenetic counselling and follow-up. Because mutations in both BRCA1 and BRCA2 are distributed throughout the loci, accepted clinical protocols involve screening their entire coding regions. Systematic Sanger sequencing is time and money consuming. Therefore, a lot of pre-screening techniques evolved over time in order to identify anomalous amplicons prior to sequencing. Because BRCA mutations are always heterozygous, heteroduplex analysis proved to be a suitable pre-screening step. We previously implemented mismatch specific endonuclease heteroduplex analysis for BRCA1 exon7. Here we show the utility of the same method for mutations and SNPs found in BRCA1 exon 11