Rare mutations in XRCC2 increase the risk of breast cancer.

@article{Park2012RareMI,
  title={Rare mutations in XRCC2 increase the risk of breast cancer.},
  author={Daniel J. Park and Fabienne Lesueur and Tu Nguyen-Dumont and Maroulio Pertesi and Fabrice Odefrey and Fleur Hammet and Susan L. Neuhausen and Esther M John and Irene L Andrulis and Mary Beth Terry and Mark K. Daly and Sorority Buys and Florence Le Calvez-Kelm and Andrew Lonie and Bernard J. Pope and Helen Tsimiklis and Catherine Voegele and Florentine Hilbers and Nicoline Hoogerbrugge and Angel Ar{\'e}valo Barroso and Ana Lu{\'i}za AR Os{\'o}rio and Graham G. Giles and Peter Devilee and Javier Prado Ben{\'i}tez and John L. Hopper and Sean V. Tavtigian and David E. Goldgar and Melissa C. Southey},
  journal={American journal of human genetics},
  year={2012},
  volume={90 4},
  pages={
          734-9
        }
}
An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p < 0.02). We also performed additional… CONTINUE READING
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