BRCA1 and oculopharyngeal muscular dystrophy: Interestingly, the genes that were most convincingly over-expressed in the immortal OPMD keratinocytes were involved in the HR/FA pathway (BLM, BRCA1/FANC, BRAC2/FANCD1, RAD51C/FANCR, XRCC2/FANCU) (Figure 1).