Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients

@inproceedings{Obermeier2016HeterozygousPC,
  title={Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients},
  author={Kathrin Obermeier and Juliane Sachsenweger and Thomas W. P. Friedl and Helmut Pospiech and Robert Winqvist and Lisa Wiesm{\"u}ller},
  booktitle={Oncogene},
  year={2016}
}
Hereditary heterozygous mutations in a variety of DNA double-strand break (DSB) repair genes have been associated with increased breast cancer risk. In the Finnish population, PALB2 (partner and localizer of BRCA2) represents a major susceptibility gene for female breast cancer, and so far, only one mutation has been described, c.1592delT, which leads to a sixfold increased disease risk. PALB2 is thought to participate in homologous recombination (HR). However, the effect of the Finnish founder… CONTINUE READING
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