rs555607708
A SNP in the CHEK2 gene on chromosome 22. Its most notable genotype is -;G: increased risk of breast and prostate cancer
- Gene
- CHEK2
- Location
- Chr 2228,695,869 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (-;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other CHEK2 SNPs
- rs121908702A;CBreast cancer associated mutationVery important
- rs137853007A;GBreast cancer associated mutationVery important
- rs587780183-;ABreast cancer associated mutationVery important
- rs587780184-;ABreast cancer associated mutationVery important
- rs587780186-;CBreast cancer associated mutationVery important
- rs587781269A;GBreast cancer associated mutationVery important
- rs587781592A;GBreast cancer associated mutationVery important
- rs587781699C;TBreast cancer associated mutationVery important
Notes
From SNPedia
Show notes, about 180 words
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.
-;G
2 to 5 fold increase in risk for breast and/or prostate cancer, especially in families prone to either
Source and license
Adapted from rs555607708 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.