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CHEK2

From SNPedia

is agene
is mentioned by
Full nameCHK2 checkpoint homolog (S. pombe)
EntrezGene11200
PheGenI11200
VariationViewer11200
ClinVarCHEK2
GeneCardsCHEK2
dbSNP11200
SADR11200
HugeNav11200
wikipediaCHEK2
googleCHEK2
gopubmedCHEK2
EVSCHEK2
HEFalMpCHEK2
MyGene2CHEK2
23andMeCHEK2
UniProtO96017
EnsemblENSG00000183765
OMIM604373
# SNPs108
 Max MagnitudeChromosome positionSummary
i400046229,091,857
rs121908698028,725,242
rs121908701028,725,027
rs121908702028,711,986
rs137853007028,725,254
rs137853008028,734,673
rs137853009028,725,030
rs137853010028,725,028
rs137853011028,695,219
rs141568342028,734,532
rs142763740028,694,066
rs154701428,704,723
rs1750706628,696,732
rs17879961028,725,099
rs17883862028,734,468
rs1805129028,734,470
rs200432447028,687,974
rs200928781028,695,800
rs201730928,735,438
rs223614128,741,882
rs223614228,741,956
rs28909980028,696,957
rs289099822.928,725,338
rs371418985028,695,737
rs403554028,691,053
rs482298328,719,078
rs531398630028,695,858
rs540635787028,694,073
rs545982789028,711,907
rs555607708328,695,869
rs576274628,692,135
rs576276428,737,002
rs587780173028,695,715
rs587780174028,695,239
rs587780183028,725,062
rs587780184028,725,044
rs587780185028,725,004
rs587780186028,724,988
rs587780192028,699,929
rs587781269028,734,439
rs587781592028,734,571
rs587781699028,703,504
rs587781705028,734,506
rs587781836028,695,757
rs587782008028,725,084
rs587782070028,734,443
rs587782245028,724,978
rs587782401028,734,401
rs587782575028,689,217
rs587782684028,687,962
... 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:

  • 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.