This is the case for the c.68_69del and c.5266dup mutations in BRCA1 and c.5946del mutation in BRCA2 (until recently referred in the literature as 185delAG, 5382insC and 6174delT, respectively) which are found in 10-12% of Ashkenazi Jewish women diagnosed with breast cancer [8,9]. The gene discussed is BRCA2; the disease is breast cancer.