CHEK2 is now considered a common “moderate” risk gene for breast cancer.
Whereas, one variant, T59K, appeared to be associated with cancer (particularly breast cancer) in Icelandic patients ( 107). This variant is found in approximately 1.4% of Caucasians of northern European descent ( 106) and is associated with a twofold to threefold increased risk for breast cancer (CHEK consortium 2004). A common deleterious variant in CHEK2, 1100delC, is predicted to result in a truncated version of the repair protein. CHEK2 was dubbed the breast–colon gene as it appeared to increase the risk for breast and colon cancers in both men and women, as well as prostate cancer in men ( 105). CHK2 (or CHEK2) functions broadly comparable to ATM, has been implicated in some instances of LFS and is considered a low-penetrance breast cancer gene. Ora Karp Gordon, in Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013 89.6.5 CHEK2ĬHEK2 produces a checkpoint kinase protein, activated in response to radiation and other agents that cause breaks in the DNA.
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