MULTIPLEX-PCR GENERATES FALSE POSITIVES IN DETECTION OF THE BRCA1 185delAG RECURRENT MUTATION

reast and ovarian cancer are common pathologies in women, with increasing incidences worldwide. In hereditary breast and ovarian cancer (HBOC) families, a large percentage of cases are attributable to hereditary factors compatibles with dominant autosomal transmission of a major tumour suppressor gene with incomplete penetrance. Screening for BRCA1 mutations is now standard practice for HBOC cases in western world, and permits medical follow- up and genetic counselling. Over 300 BRCA1 germinal mutations are stored in the Breast Cancer Information Core (BIC) mutation database. 185delAG, an Ashkenazi founder mutation, is a recurrent BRCA1 mutation in eastern European populations. Several screening methods were proposed for detection of 185delAG. We demonstrate that one screening methods generates false positives by unspecific amplifications, therefore being inappropriate for molecular diagnosis.