Rs555607708

rs555607708, also known as 1100delC, is a SNP in the checkpoint kinase 2 CHEK2 gene on chromosome 22.

The rare rs555607708(-) allele represents a single nucleotide deletion, and as first reported in 1999, it was reported as causative in heterozygous form in several families for Li-Fraumeni syndrome-2, and associated with breast cancer, glioma, histiocytoma, and sarcoma.

In subsequent years, this SNP has generally been reported as associated with increased cancer risk, including:


 * Breast cancer
 * 2-fold increase of risk in women and a 10-fold increase of risk in men
 * 2-fold increase of risk in women in the 10,000 woman+ CHEK2 Breast Cancer Case-Control Consortium study


 * Prostate cancer
 * 5-fold increase of risk in a study of ~2,000 Polish patients

23andMe reports on this SNP under the name i4000462. In ClinVar, four companies all assert pathogenicity for this mutation, primarily for hereditary breast cancer. In OMIM, this is allelic variant 0001 in entry 604373.