Detection of 1100delC and IVS2+1G>A mutations in the CHEK2 gene

Mutations (1100delC) and (IVS2+1G>A) in the CHEK2 gene are found in patients who have a high risk of developing estrogen-positive breast cancer. Both mutations are also associated with an additional risk of developing bilateral cancer and with poor long-term disease-free and overall survival rates. Furthermore, the presence of these mutations increases the risk of developing other types of cancer: stomach cancer, kidney cancer, sarcoma, and prostate cancer.

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