CHEK2

is a	gene
is	mentioned by
Full name	CHK2 checkpoint homolog (S. pombe)
EntrezGene	11200
PheGenI	11200
VariationViewer	11200
ClinVar	CHEK2
GeneCards	CHEK2
dbSNP	11200
Diseases	CHEK2
SADR	11200
HugeNav	11200
wikipedia	CHEK2
google	CHEK2
gopubmed	CHEK2
EVS	CHEK2
HEFalMp	CHEK2
MyGene2	CHEK2
23andMe	CHEK2
UniProt	O96017
Ensembl	ENSG00000183765
OMIM	604373
# SNPs	137

	Max Magnitude	Chromosome position
i4000462		29,091,857
rs1057517596	0	28,699,937
rs1060502684	0	28,695,829
rs1060502687	0	28,711,917
rs1060502698	0	28,689,216
rs1060502710	0	28,711,922
rs1060502711	0	28,734,446
rs1060502716	0	28,695,874
rs1064793566	0	28,696,904
rs1064793780	0	28,725,242
rs1064793817	0	28,734,694
rs1064794965	0	28,695,826
rs1064795959	0	28,734,440
rs1064796016	0	28,703,500
rs121908698	0	28,725,242
rs121908701	0	28,725,027
rs121908702	6	28,711,986
rs121908707	0	28,695,709
rs137853007	6	28,725,254
rs137853008	0	28,734,673
rs137853009	0	28,725,030
rs137853010	0	28,725,028
rs137853011	0	28,695,219
rs141568342	0	28,734,532
rs142763740	0	28,694,066
rs1547014	0	28,704,723
rs17507066	0	28,696,732
rs17879961	0	28,725,099
rs17883862	0	28,734,468
rs1805129	0	28,734,470
rs200432447	0	28,687,974
rs200928781	0	28,695,800
rs2017309	0	28,735,438
rs2236141	0	28,741,882
rs2236142	0	28,741,956
rs28909980	0	28,696,957
rs28909982	2.9	28,725,338
rs371418985	0	28,695,737
rs4035540	0	28,691,053
rs4822983	0	28,719,078
rs531398630	0	28,695,858
rs536907995	0	28,734,664
rs540635787	0	28,694,073
rs545982789	0	28,711,907
rs555607708	3	28,695,869
rs560596101	0	28,725,241
rs5762746	0	28,692,135
rs5762764	0	28,737,002
rs587780170	0	28,695,786
rs587780173	0	28,695,715
... further results

CHEK2 is a gene linked to Breast cancer. The CHEK2 protein is thought to prevent cancer by inhibiting the division of cells that have damaged DNA.

SNPs in CHEK2 include:

rs17879961, known as I157T

i4000462 in 23andMe reports, known as 1100delC, has been associated with a 1.4x to 4.7x increased risk for breast cancer. Carriers of one copy of this deletion produce half the normal amount of the CHEK2 protein. This deletion is one of the more common genetic variants associated with breast cancer.

"The aim of this study was to determine whether common polymorphic variants in CHEK2 are associated with an increase in breast cancer risk. We examined two variants: an insertion of a single nucleotide in intron 1 rs3841692 and a single nucleotide a to g substitution rs1805129, which is a silent alteration in codon 84 of the coding sequence." [1]

[PMID 17517688] Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case-control study.

[PMID 17508290] Genetic susceptibility to breast cancer.

[PMID 17458694] Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

[PMID 17428325] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

[PMID 17428320] Identification of women with an increased risk of developing radiation-induced breast cancer: a case only study.