Mutation analysis of the CHK2 gene in breast carcinoma and other cancers

  title={Mutation analysis of the CHK2 gene in breast carcinoma and other cancers},
  author={Sigurður Ingvarsson and Bjarnveig I Sigbjornsdottir and Chen Huiping and Sigridur H Hafsteinsdottir and Gisli Ragnarsson and Rosa Bjork Barkardottir and Adalgeir Arason and Valgardur Egilsson and Jon Th Bergthorsson},
  journal={Breast Cancer Research},
  pages={R4 - R4}
Mutations in the CHK2 gene at chromosome 22q12.1 have been reported in families with Li-Fraumeni syndrome. Chk2 is an effector kinase that is activated in response to DNA damage and is involved in cell-cycle pathways and p53 pathways. We screened 139 breast tumors for loss of heterozygosity at chromosome 22q, using seven microsatellite markers, and screened 119 breast tumors with single-strand conformation polymorphism and DNA sequencing for mutations in the CHK2 gene. Seventy-four of 139… CONTINUE READING


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