TY - JOUR T1 - <em>BRCA1-BRCT</em> Mutations Alter the Subcellular Localization of BRCA1 <em>In Vitro</em> JF - Anticancer Research JO - Anticancer Res SP - 2953 LP - 2962 DO - 10.21873/anticanres.15077 VL - 41 IS - 6 AU - IOANNIS DRIKOS AU - EFFROSSYNI BOUTOU AU - PANAGIOTIS L. KASTRITIS AU - CONSTANTINOS E. VORGIAS Y1 - 2021/06/01 UR - http://ar.iiarjournals.org/content/41/6/2953.abstract N2 - Background/Aim: Numerous missense mutations have been determined in the BRCT domain of the BRCA1 gene, affecting localization and interaction of BRCA1 with other proteins. Materials and Methods: We examined whether the M1775K and V1809F mutations in the BRCT domain affect BRCA1 cellular localization. Cells were transfected with pEGFP-C3-BRCA1 and detected by fluorescence microscopy. Results: Following induction of DNA damage, cytoplasmic mislocalization was observed for both M1775K and V1809F mutants compared to EGFP-BRCA1wt and the less common variant M1652I. These results indicate that M1775K and V1809F mutations may change the function of the protein by affecting BRCA1 localization. Conclusion: There is a correlation between subcellular localization of BRCA1 and diminished DNA repair observed in breast cancer cells, which may be explained by structural variations and altered binding properties of phosphopeptides. ER -