CHEK2 gene mutation

Clinical significance

• CHEK2 gene c.470C>T & 1100delC
• defects in CHEK2 are associated with Li-Fraumeni syndrome 2
• defects in CHEK2 are found in some patients with:
  • prostate cancer
  • osteosarcoma

More general terms

• gene mutation testing; gene mutation analysis

More specific terms

• CHEK2 gene deletion+duplication+mutation analysis

Additional terms

• checkpoint kinase 2; serine/threonine protein kinase Chk2; homolog of S. cerevisiae Rad53; Cds1 (CHEK2, CHK2, RAD53)