Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: Not present in the Chinese familial breast cancer population

Abstract

The 1100delC CHEK2 allele has been associated with a 1.4-to 4.7-fold increased risk of breast cancer in women carrying this mutation. Our study investigated the frequency of this allele in a Chinese population. Using touchdown polymerase chain reaction, we sequenced the CHEK2.1100delC mutation in 74 breast cancer patients with a family history of breast cancer and 50 control subjects. We did not find the CHEK2.1100delC mutation in any of the Chinese subjects. However, another missense mutation, 1111C>T (His371Tyr), was found in a familial breast cancer patient, but not in any other subjects. The CHEK2.1100delC mutation may be a rare variant in Chinese populations and may not contribute to predisposition for familial breast cancer in China. However, there may be an association between genetic susceptibility to breast cancer in China and the variant 1111C>T.