The R280H X-ray cross-complementing 1 germline variant induces genomic instability and cellular transformation
作者： Daria V. Sizova , Agnes Keh , Ben F. Taylor , Joann B. Sweasy
DOI: 10.1016/J.DNAREP.2015.05.005
关键词:
摘要: X-ray repair cross complementing protein 1 (XRCC1) plays an important role in base excision DNA (BER) as a scaffolding for BER enzymes. is one of the basic pathways repairing greater than 20,000 endogenous lesions per cell day. Proper functioning XRCC1, most players BER, was suggested to be indispensable effective repair. Despite accumulating evidence that XRCC1 maintaining genomic stability, relationship between its predominant variants, R280H (rs25489), and cancer prevalence remains ambiguous. In current study we functionally characterized effect variant expression on immortal non-transformed mouse mammary epithelial C127 human breast MCF10A cells. We found results increased focus formation cells induces cellular transformation Cells expressing showed significantly levels chromosomal aberrations accumulate double strand breaks G1 cycle phase. Our confirm possible link instability suggest individuals carrying this mutation may at risk development.
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