Missense polymorphisms in BRCA1 and BRCA2 and risk of breast and ovarian cancer.

@article{Dombernowsky2009MissensePI,
  title={Missense polymorphisms in BRCA1 and BRCA2 and risk of breast and ovarian cancer.},
  author={Sarah Louise Dombernowsky and Maren Weischer and Jacob Johannes Freiberg and Stig Egil Bojesen and Anne Tybjaerg-Hansen and B\orge G. Nordestgaard},
  journal={Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology},
  year={2009},
  volume={18 8},
  pages={2339-42}
}
PURPOSE BRCA1 and BRCA2 are key tumor suppressors with a role in cellular DNA repair, genomic stability, and checkpoint control. Mutations in BRCA1 and BRCA2 often cause hereditary breast and ovarian cancer; however, missense polymorphisms in these genes pose a problem in genetic counseling, as their impact on risk of breast and ovarian cancer is unclear. EXPERIMENTAL DESIGN We resequenced BRCA1 and BRCA2 in 194 women with a familial history of breast and/or ovarian cancer and identified nine… CONTINUE READING
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