Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers.

ABSTRACT:

Background

The tumor suppressor pRb plays a key role regulating cell cycle arrest, and disturbances in the RB1 gene have been reported in different cancer forms. However, the literature reports contradictory findings with respect to a pro--versus anti--apoptotic role of pRb, and the consequence of alterations in RB1 to chemotherapy sensitivity remains unclear. This study is part of a project investigating alterations in pivotal genes as predictive factors to chemotherapy sensitivity in breast cancer.

Results

Analyzing 73 locally advanced (stage III) breast cancers, we identified two somatic and one germline single nucleotide changes, each leading to amino acid substitution in the pRb protein (Leu607Ile, Arg698Trp, and Arg621Cys, respectively). This is the first study reporti

SUBMITTER: Berge EO 

PROVIDER: S-EPMC2908580 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature