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The variants below are all in the CHEK2 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than CHEK2, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the CHEK2 full legend here.

241 public entries
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Path.

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference

Disease

Reference

Remarks

# Reported

Mut. origin

Gender

Occurrence

De novo origin

Geographic origin

Ethnic origin

Population


+?/?	00	c.-122C>G + c.-48G>A	C to A transversion in 5'UTR	-	p.?	-	-	312/500	308/517	CHEK2_00067	Substitution	5' UTR	DNA, RNA	PCR, SEQ	blood and lung cancer cell	-	-	Lung cancer	Zhang et al., 2010, Peikuan Cong	-	1	-	-	-	-	China	-	-
+?/?	01	c.-48G>A + c.-122C>G	-48G>A	-	p.?	-	-	141/500	192/517	CHEK2_00066	Substitution	Exon	DNA, RNA	PCR, SEQ	blood and lung cancer cell	-	-	Lung cancer	Zhang et al., 2010, Peikuan Cong	-	1	-	-	-	-	China	-	-
+?/+?	02	c.-6-5T>A + c.319+1G>A, c.319+24T>C, c.434G>A, c.470T>C, c.538C>T	IVS1-5T>A	-	-	-	-	1/631	0/683	CHEK2_00051	Substitution	Intron	DNA	DHPLC, PCR, SEQ	peripheral blood	we deduced that both variants might interfere with the binding of splicing factors.	-	sporadic colorectal cancer	Kleibl et al., 2009, Peikuan Cong	-	1	-	-	-	-	Czech Republic	-	-
?/?	02	c.-6-5T>A + c.319+1G>A, c.319+24T>C, c.320-55A>T, c.470T>C, c.538C>T, c.1100del	IVS1-5T>A	-	-	-	-	-	-	CHEK2_00051	Substitution	Intron	DNA	mPCR, SEQ	lymphocytes	-	-	sporadic pancreatic cancer	Mohelnikova-Duchonova et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Germany	-	-
?/+?	02	c.-6-5T>A + c.319+1G>T, c.319+24T>C, c.349A>G, c.470T>C, c.475T>C, c.514A>G, c.520C>T, c.538C>T, c.541C>T	IVS1-5T>A	-	p.?	-	-	0.15%	0/683	CHEK2_00071	Substitution	Intron	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-	breast cancer	Kleibl et al., 2008, Peikuan Cong	-	1	-	-	Sporadic	-	Czech	-	-
+?/?	02	c.7C>T + c.433C>T, c.470T>C, c.1100delC	-	-	p.Arg3Trp	-	-	-	-	CHEK2_00019	Substitution	Exon	DNA	PAGE, PCR, SEQ, Western	tumor	-	-	Li-Fraumeni Syndrome	Lee et al., 2001, Peikuan Cong	-	1	-	-	-	-	American	-	-
-?/?	02	c.7C>T	R3W	-	p.Arg3Trp	-	-	-	-	CHEK2_00019	Substitution	Exon	DNA	PCR, SEQ	peripheral blood & tumor samples	the mutations of the CHEK2 gene that have been associated with breast cancer (del1100C, R3W, R145W, and I157T) are rare in familial breast cancer syndromes in Spain, which confirms the limited relevance of CHEK2 screening in genetic testing.	-	hereditary breast cancer	Bellosillo et al., 2005, Peikuan Cong	CHEK2 acts as a low-penetrance tumor suppressor gene, and that it makes a significant contribution to familial clustering of breast cancer, including families with only two affected relatives	1	Inherited	Female	Familial	-	Spain	-	-
-?/?	02	c.7C>T	R3W	-	p.Arg3Trp	-	-	-	-	CHEK2_00019	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-	prostate cancer	Tischkowitz et al., 2008, Peikuan Cong	We identified seven coding SNPs (five are novel) that changed the amino acid sequence, resulting in R3W, E394F, Y424H, S428F, D438Y, P509S, and P509L.	1	-	-	-	-	Ashkenazi Jewish	-	-
-?/?	02	c.7C>T + c.?, c.1270T>C, c.1283C>T, c.1312G>T, c.1525C>T, c.1526C>T	R3W	-	p.Arg3Trp	-	-	-	-	CHEK2_00019	Substitution	Exon	DNA	PCR, SEQ	blood lymphocytes	-	-	prostate cancer	Tischkowitz et al., 2008, Peikuan Cong	Prostate cancer (PRCA) is a leading cause of morbidity and mortality in men.	1	Inherited	-	Familial	-	Ashkenazi Jewish	-	-
+/?	02	c.53G>A	-	-	p.Cys18Tyr	-	NA	-	-	CHEK2_00099	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+/?	02	c.73G>A	-	-	p.Val25Ile	-	NA	-	-	CHEK2_00098	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+/?	02	c.89G>A	-	-	p.Gly30Asp	-	NA	-	-	CHEK2_00097	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+?/?	02	c.176C>A + c.252A>G	-	-	p.Thr59Lys	-	-	1/146	0/904	CHEK2_00020	Substitution	Exon	DNA	PCR, RT-PCR, SEQ, SSCA	tumor	-	-	breast carcinoma and other cancers	Ingvarsson et al., 2002, Peikuan Cong	-	1	-	-	Sporadic	-	Iceland	-	-
+/?	02	c.176C>A	-	-	p.Thr59Lys	-	NA	-	-	CHEK2_00020	Substitution	Exon	DNA	PCR	unknown	-	lovddeng	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/?	02	c.190G>A + 17 others	-	-	p.Glu64Lys	-	-	1/698	0/423	CHEK2_00024	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-	Prostate Cancer	Dong et al., 2003, Peikuan Cong	our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage	1	-	Male	-	-	USA	-	-
+?/?	02	c.190G>A + c.349A>G, c.470T>C, c.541C>T, c.715G>A, c.961G>A, c.967A>C, c.1100 delC, c.1427C>A	c.190G>A	-	p.Glu64Lys	-	-	-	-	CHEK2_00024	Substitution	Exon	DNA	DHPLC, PCR, SEQ, Western	primary prostate tumor tissue	the p.E64K mutant had a reduction of Thr-68 phosphorylation of CHEK2 following DNA damage	-	Prostate Cancer	Wu et al., 2006, Peikuan Cong	-	1	-	-	Sporadic	-	America	Rochester, Minnesota	-
+/?	02	c.190G>A	-	-	p.Glu64Lys	-	NA	-	-	CHEK2_00024	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/+	02	c.245_260del + 17 others	-	-	p.Asp82GlyfsX23	-	-	1/698	0/423	CHEK2_00025	Deletion	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-	Prostate Cancer	Dong et al., 2003, Peikuan Cong	our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage	1	-	Male	-	-	USA	-	-
?/-?	02	c.252A>G + c.176C>A	-	-	p.Glu84Glu	-	-	0/130	5/344	CHEK2_00006	Substitution	Exon	DNA	PCR, RT-PCR, SEQ, SSCA	tumor	-	-	breast carcinoma and other cancers	Ingvarsson et al., 2002, Peikuan Cong	-	1	-	-	Sporadic	-	Iceland	-	-
-?/-?	02	c.252A>G + c.433C>T, c.470T>C, c.1100delC, c.1425del	-	-	p.Glu84Glu	-	-	-	-	CHEK2_00006	Substitution	Exon	DNA	DHPLC, RT-PCR, SEQ	lymphoblasts,fibroblasts	-	-	Li-Fraumeni Syndrome	Bell et al., 1999, Peikuan Cong	-	1	Inherited	-	Familial	-	USA,UK	-	-
-?/?	02	c.252A>G + c.319+44insA, c.433C>T, c.444+24C>T, c.470T>C, c.1100delC, c.1375+78C>G, c.1462-211A>G, c.1462-198C>T, c.1462-25A>G	252A	-	p.Glu84Glu	-	-	-	-	CHEK2_00006	Substitution	Exon	DNA	DSCA, IHC, PCR, SEQ	tumor tissue	-	-	breast cancer	Kilpivaara et al., 2004, Peikuan Cong	-	1	Inherited	-	Familial	-	Finland	Helsinki,Tampere	-
-?/?	02	c.252A>G + c.470T>C	the silent polymorphism 252A>G	-	p.Glu84Glu	-	-	1/53	-	CHEK2_00006	Substitution	Exon	DNA	IHC, PCR, SEQ	lymphocytes	-	-	stage III breast cancer	Staalesen et al., 2004, Peikuan Cong	-	1	-	-	-	-	Norway	-	-
-?/?	02	c.252A>G + c.1100delC	the A252G silent variant in exon 1	-	p.Glu84Glu	-	-	-	-	CHEK2_00006	Substitution	Exon	DNA	DGGE, DHPLC, PCR, SEQ	whole blood or peripheral blood white cells	The frequency of the silent A252G variant did not show significant differences between the cases and the controls	-	ovarian cancer	Baysal et al., 2004, Peikuan Cong	Ovarian cancer (OvCa) is a leading cause of death from gynecologic malignancy in the United States.	1	Inherited	-	Familial	-	America	African American,Caucasian,Hispanic,other	-
-?/-?	02	c.252A>G + c.319+43_319+44insA, c.470T>C, c.1100delC, c.1312G>T	-	-	p.Glu84Glu	-	-	-	-	CHEK2_00006	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	hereditary prostate cancer	Sepp?l? et al., 2003, Peikuan Cong	-	1	Inherited	Male	Familial	-	Finland	-	-
-?/-?	02	c.252A>G	silent substitution 252A>G (E84E)	-	p.Glu84Glu	-	-	-	-	CHEK2_00006	Substitution	Exon	DNA	PCR, SEQ	blood	The novel CHEK2 missense variant identified in this study, R406H, is unlikely to contribute to breast cancer risk in French Canadian women.	-	breast cancer	Novak et al., 2008, Peikuan Cong	Two variants were identified: the previously reported silent substitution 252A>G (E84E) and the novel missense variant, 1217G>A (R406H).	1	-	Female	-	-	French Canadian	-	-
-?/?	02	c.254C>T	CHEK2.P85L	-	p.Pro85Leu	-	-	-	-	CHEK2_00043	Substitution	Exon	DNA	PCR, RT-PCR, SEQ	peripheral blood	Haplotypes at CHEK2 in this population may be instructive in designing the efficient strategies for identifying novel breast cancer genes.	-	breast cancer	Shaag et al., 2005, Peikuan Cong	We conclude that CHEK2.S428F increases breast cancer risk 2-fold among Ashkenazi Jewish women, whereas CHEK2.P85L is a neutral allele.	1	De novo	Female	Sporadic	Patient	Ashkenazi Jewish	-	-
?/+	02	c.283C>T + c.1091T>C	-	-	p.Arg95X	-	-	2/109	-	CHEK2_00054	Substitution	Exon	DNA, RNA	PCR, SEQ	tumor biopsies and blood lymphocytes	-	-	Primary Breast Cancer	Chrisanthar et al., 2008, Peikuan Cong	-	1	Inherited	Female	-	-	Norway	-	-
+/+?	02	c.319+1G>A + c.-6-5T>A, c.319+24T>C, c.434G>A, c.470T>C, c.538C>T	IVS2+1G>A fs154X	-	-	-	-	2/631	0/683	CHEK2_00027	Substitution	Intron	DNA	DHPLC, PCR, SEQ	peripheral blood	-	-	sporadic colorectal cancer	Kleibl et al., 2009, Peikuan Cong	-	1	-	-	-	-	Czech Republic	-	-
?/+?	02	c.319+1G>A + c.-6-5T>A, c.319+24T>C, c.320-55A>T, c.470T>C, c.538C>T, c.1100del	IVS2+1G>A (fs154X)	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	mPCR, SEQ	lymphocytes	-	-	sporadic pancreatic cancer	Mohelnikova-Duchonova et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Germany	-	-
+?/+?	02	c.319+1G>A + 17 others	-	-	-	-	-	1/698	0/423	CHEK2_00027	Substitution	Intron	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling.	-	Prostate Cancer	Dong et al., 2003, Peikuan Cong	our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage	1	-	Male	-	-	USA	-	-
?/+?	02	c.319+1G>A + c.470T>C, c.715G>A, c.751A>T, c.1100delC	-	-	-	-	-	1/456	0/400	CHEK2_00027	Substitution	Intron	DNA	PCR, SEQ	unknown	The IVS10-129a/t is likely to be a neutral change because of its intronic location far from the splice-site positions.	-	FAMILIAL BREAST CANCER	Dong et al., 2003, Peikuan Cong	-	1	-	-	-	-	Spain	-	-
+?/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	DGGE, PCR	blood	-	-	ovarian tumor	Szymanska-Pasternak et al., 2006, Peikuan Cong	Ovarian cystadenoma is a benign tumor of the ovarian epithelium with histologic features similar to those of malignant cystadenocarcinoma.	1	-	-	-	-	Poland	-	-
+?/+?	02	c.319+1G>A	IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PAGE, PCR, SEQ	blood	The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.	-	breast and prostate cancer	Cybulski et al., 2004, Peikuan Cong	The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.	1	De novo	-	Sporadic	Patient	Poland	-	-
+?/+?	02	c.319+1G>A	IVS2+G > A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PCR, SEQ	peripheral EDTA blood	Our results indicate that the I157T missense substitution and probably the IVS211G>A splicing mutation are associated with increased breast cancer risk.	-	breast cancer	Bogdanova et al., 2005, Peikuan Cong	Family history of breast cancer did not differ between carriers and noncarriers. Our data indicate that the I157T allele, and possibly the IVS211G > A allele, of the CHEK2 gene contribute to inherited breast cancer susceptibility.	1	De novo	Female	Sporadic	Patient	Germany	-	-
+?/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2+1G>A	-	-	-	-	5953	-	CHEK2_00027	Substitution	Intron	DNA	PCR	Blood	The risk of cancer in a carrier of a CHEK2 mutation is dependent on the family history of cancer.	-	Breast/Prostate/Colon Cancer	Gronwald et al. 2009, Peikuan Cong	For breast and prostate cancer, the truncating mutations are associated with higher penetrance than the missense mutation. For colon cancer, only the missense variant I157T is associated with an elevated risk.	1	-	-	-	-	Poland	Polish	-
+/+?	02	c.319+1G>A	IVS2 + G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PCR, SEQ	blood	the CHEK2 allele I157T was by far the most common (222 times). The second most common allele in controls was CHEK2 IVS + 1G>A mutation (19 times)	-	breast cancer	{PMID15980987:G, Peikuan Cong	a higher odds ratio was seen for truncating CHEK2 mutations (OR = 2.1) than for the missense mutation I157T (OR = 1.4). This study suggests that cancer risks may be specific for particular alleles of a susceptibility gene and that these different risks should be taken into account by genetic counselors.	1	De novo	Female	Sporadic	Patient	Poland	-	-
+/+?	02	c.319+1G>A + c.470T>C, c.1100delC	-	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	SEQ	blood	CHEK2 mutations included 1100delC, IVS2 + 1G>A, del5395, I157T,	-	breast cancer in Poland	Jakubowska et al., 2008, Peikuan Cong	CHEK2 mutations included 1100delC, IVS2 + 1G>A, del5395, I157T,	1	-	-	-	-	Poland	-	-
+?/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2+1G>A	-	-	-	-	1/ 463	5496	CHEK2_00027	Substitution	Intron	DNA	PCR	Unknown	-	-	Hereditary non-polyposis-colorectal cancer et al.	Suchy et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Poland	-	-
?/+?	02	c.319+1G>A + c.470T>C, c.1100del	IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Exon	DNA	PCR, SEQ	blood	-	-	breast cancer	Cybulski et al., 2009, Peikuan Cong	the risk of breast cancer in carriers of a deleterious CHEK2 mutation is increased if the second allele is the I157T missense variant.	1	-	Female	-	-	Poland	-	-
+/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2+ 1G>A	-	-	-	-	11/788	5/1921	CHEK2_00027	Substitution	Intron	DNA	SEQ	blood	truncating mutations	-	Prostate Cancer	Cybulski et al., 2004, Peikuan Cong	-	1	-	-	-	-	Poland	-	-
?/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2 + 1G> A	-	-	-	-	0/35	-	CHEK2_00027	Substitution	Intron	DNA	PCR, SEQ	peripheral blood lymphocytes	In summary, we provide a first hint that the germ line variant CHEK2 * 1100delC might be rarely associated with the predisposition to FPC, but is not a major determinant of the disease. Since our study is underpowered, large well-controlled studies on sporadic and familial PC are needed to determine the risk for PC of CHEK2 founder alleles in different populations.	-	familial pancreatic cancer	Bartsch et al., 2006, Peikuan Cong	Only families with at least two first-degree relatives with PC confirmed by medical and/or histopathological records were selected for the study.	1	Inherited	-	Familial	-	Germany	-	-
+?/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2 + 1G>A	-	-	-	-	43/4454	22/5496	CHEK2_00027	Substitution	Intron	DNA	mPCR, PCR, SEQ	blood	In conclusion, there are (at minimum) four founder alleles of the CHEK2 gene which predispose to breast cancer in Poland, including a 5,395 deletion.	-	breast cancer	Cybulski et al., 2007, Peikuan Cong	-	1	-	-	-	-	Poland	-	-
+/+?	02	c.319+1G>A	IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PCR	blood	Women with a CHEK2 mutation face a fourfold increase in the risk of ER-positive breast cancer and might be candidates for tamoxifen chemoprevention.	-	breast cancer	Cybulski et al., 2009, Peikuan Cong	we screened 4441 women diagnosed with breast cancer younger than 51 years and 7217 controls for three inherited mutations in CHEK2 (1100delC, IVS211G.A, del5395).	1	-	Female	-	-	Poland	-	-
+?/+?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PCR, SEQ	peripheral blood	truncating variant observed more frequently in the controls than in the cases	-	lung and laryngeal cancers	Cybulski et al., 2008, Peikuan Cong	-	1	Inherited	-	-	-	poland	-	-
-?/+?	02	c.319+1G>A	CHEK2 IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PCR	blood	this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.	-	ovarian cancer	Suspitsin et al., 2009, Peikuan Cong	Founder BRCA1 mutations, especially BRCA1 5382insC variant, are responsible for substantial share of OC morbidity in Russia, therefore DNA testing has to be considered for every OC patient of Russian origin.	1	-	Female	-	-	Russia	-	-
+?/?	02	c.319+1G>A + c.470T>C, c.1100delC	IVS2+1G>A	-	-	-	-	31/3228	22/5496	CHEK2_00049	Substitution	Intron	DNA	PCR, SEQ	blood	In conclusion, we estimate that f8% of early-onset breast cancers arise in Poland in women with a germ line CHEK2 mutation. Both missense and truncating mutations seem to be pathogenic.	-	Breast Cancers	Cybulski et al., 2011, Peikuan Cong	-	1	-	-	-	-	Poland	-	-
+/+?	02	c.319+1G>T + c.-6-5T>A, c.319+24T>C, c.349A>G, c.470T>C, c.475T>C, c.514A>G, c.520C>T, c.538C>T, c.541C>T	c.IVS2 + 1G>T	-	-	-	-	0.15%	0/683	CHEK2_00107	Substitution	Intron	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-	breast cancer	Kleibl et al., 2008, Peikuan Cong	-	1	-	-	Sporadic	-	Czech	-	-
+?/?	02	c.319+24T>C + c.-6-5T>A, c.319+1G>A, c.434G>A, c.470T>C, c.538C>T	IVS2+24C>T	-	-	-	-	3/631	1/683	CHEK2_00106	Substitution	Intron	DNA	DHPLC, PCR, SEQ	peripheral blood	we deduced that both variants might interfere with the binding of splicing factors.	-	sporadic colorectal cancer	Kleibl et al., 2009, Peikuan Cong	-	1	-	-	-	-	Czech Republic	-	-
?/?	02	c.319+24T>C + c.-6-5T>A, c.319+1G>A, c.320-55A>T, c.470T>C, c.538C>T, c.1100del	IVS2+24C>T	-	-	-	-	-	-	CHEK2_00106	Substitution	Intron	DNA	mPCR, SEQ	lymphocytes	-	-	sporadic pancreatic cancer	Mohelnikova-Duchonova et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Germany	-	-
?/?	02	c.319+24T>C + c.-6-5T>A, c.319+1G>T, c.349A>G, c.470T>C, c.475T>C, c.514A>G, c.520C>T, c.538C>T, c.541C>T	c.IVS2 + 24C>T	-	-	-	-	0.15%	0.15%	CHEK2_00106	Substitution	Intron	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-	breast cancer	Kleibl et al., 2008, Peikuan Cong	-	1	-	-	Sporadic	-	Czech	-	-
?/?	02	c.319+43_319+44insA + c.252A>G, c.470T>C, c.1100delC, c.1312G>T	319+(43-44)insA	-	-	-	-	-	-	CHEK2_00023	Insertion	Intron	DNA	PCR, SEQ, SSCA	blood	-	-	hereditary prostate cancer	Sepp?l? et al., 2003, Peikuan Cong	-	1	Inherited	Male	Familial	-	Finland	-	-
?/?	02	c.319+44insA + c.252A>G, c.433C>T, c.444+24C>T, c.470T>C, c.1100delC, c.1375+78C>G, c.1462-211A>G, c.1462-198C>T, c.1462-25A>G	319 + 44insA Common polymorphism	-	-	-	-	-	-	CHEK2_00007	Insertion	Intron	DNA	DSCA, IHC, PCR, SEQ	tumor tissue	-	-	breast cancer	Kilpivaara et al., 2004, Peikuan Cong	-	1	Inherited	-	Familial	-	Finland	Helsinki,Tampere	-
?/-?	03	c.320-55A>T + c.-6-5T>A, c.319+1G>A, c.319+24T>C, c.470T>C, c.538C>T, c.1100del	VS2-55C>T	-	-	-	-	-	-	CHEK2_00050	Substitution	Intron	DNA	mPCR, SEQ	lymphocytes	-	-	sporadic pancreatic cancer	Mohelnikova-Duchonova et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Germany	-	-
+?/?	03	c.349A>G + c.-6-5T>A, c.319+1G>T, c.319+24T>C, c.470T>C, c.475T>C, c.514A>G, c.520C>T, c.538C>T, c.541C>T	c.349A>G R117G	-	p.Arg117Gly	-	-	0.15%	0/683	CHEK2_00004	Substitution	Exon	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-	breast cancer	Kleibl et al., 2008, Peikuan Cong	-	1	-	-	Sporadic	-	Czech	-	-
+?/?	03	c.349A>G + c.190G>A, c.470T>C, c.541C>T, c.715G>A, c.961G>A, c.967A>C, c.1100 delC, c.1427C>A	c.349A>G	-	p.Arg117Gly	-	-	-	-	CHEK2_00004	Substitution	Exon	DNA	DHPLC, PCR, SEQ, Western	primary prostate tumor tissue	p.R117G mutation partially reduced CHEK2 kinase activity	-	Prostate Cancer	Wu et al., 2006, Peikuan Cong	-	1	-	-	Sporadic	-	America	Rochester, Minnesota	-
?/?	03	c.349A>G + c.410G>A, c.539G>A, c.1100delC	-	-	p.Arg117Gly	-	-	2/68 families	0/300	CHEK2_00004	Substitution	Exon	DNA	PCR, SEQ	EDTA-venous blood samples	Tumour DNA from the individual with this variant was available to investigate whether loss of heterozygosity is a mechanism by which this variant might confer susceptibility.	-	breast cancer	Sodha et al., 2002, Peikuan Cong	-	1	-	Female	-	-	UK	-	-
+/?	03	c.349A>G	-	-	p.Arg117Gly	-	NA	-	-	CHEK2_00004	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+/?	03	c.389T>A	-	-	p.Leu130Gln	-	NA	-	-	CHEK2_00096	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+?/?	03	c.410G>A + c.349A>G, c.539G>A, c.1100delC	-	-	p.Arg137Gln	-	-	2/68 families	0/300	CHEK2_00005	Substitution	Exon	DNA	PCR, SEQ	EDTA-venous blood samples	-	-	breast cancer	Sodha et al., 2002, Peikuan Cong	-	1	-	Female	-	-	UK	-	-
+?/?	03	c.433C>T + c.7C>T, c.470T>C, c.1100delC	-	-	p.Arg145Trp	-	-	-	-	CHEK2_00014	Substitution	Exon	DNA	PAGE, PCR, SEQ, Western	tumor	-	-	Li-Fraumeni Syndrome	Lee et al., 2001, Peikuan Cong	-	1	-	-	-	-	American	-	-
?/?	03	c.433C>T + c.252A>G, c.470T>C, c.1100delC, c.1425del	-	-	p.Arg145Trp	-	-	-	-	CHEK2_00014	Substitution	Exon	DNA	DHPLC, RT-PCR, SEQ	lymphoblasts,fibroblasts	-	-	Li-Fraumeni Syndrome	Bell et al., 1999, Peikuan Cong	-	1	Inherited	-	Familial	-	USA,UK	-	-
+/?	03	c.433C>T + c.252A>G, c.319+44insA, c.444+24C>T, c.470T>C, c.1100delC, c.1375+78C>G, c.1462-211A>G, c.1462-198C>T, c.1462-25A>G	R145W	-	p.Arg145Trp	-	-	-	-	CHEK2_00014	Substitution	Exon	DNA	IHC, PCR, SEQ	tumor tissue	the proteins are unstable and functionally defective, and therefore likely represent classical loss-of-function mutants.	-	breast cancer	Kilpivaara et al., 2004, Peikuan Cong	-	1	Inherited	-	Familial	-	Finland	Helsinki,Tampere	-
-?/?	03	c.433C>T	R145W	-	p.Arg145Trp	-	-	-	-	CHEK2_00048	Substitution	Exon	DNA	PCR, SEQ	peripheral blood & tumor samples	the mutations of the CHEK2 gene that have been associated with breast cancer (del1100C, R3W, R145W, and I157T) are rare in familial breast cancer syndromes in Spain, which confirms the limited relevance of CHEK2 screening in genetic testing.	-	hereditary breast cancer	Bellosillo et al., 2005, Peikuan Cong	CHEK2 acts as a low-penetrance tumor suppressor gene, and that it makes a significant contribution to familial clustering of breast cancer, including families with only two affected relatives	1	Inherited	Female	Familial	-	Spain	-	-
+?/?	03	c.434G>A + c.-6-5T>A, c.319+1G>A, c.319+24T>C, c.470T>C, c.538C>T	-	-	p.Arg145Gln	-	-	1/631	0/683	CHEK2_00047	Substitution	Exon	DNA	DHPLC, PCR, SEQ	peripheral blood	The no- vel c.434G>A transition (R145Q) found in one CRC patient leads to the replacement of highly conservative Arg to Glu.	-	sporadic colorectal cancer	Kleibl et al., 2009, Peikuan Cong	-	1	-	-	-	-	Czech Republic	-	-
?/?	03	c.434G>C + 17 others	-	-	p.Arg145Pro	-	-	1/698	0/423	CHEK2_00026	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-	Prostate Cancer	Dong et al., 2003, Peikuan Cong	our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage	1	-	Male	-	-	USA	-	-
+/?	03	c.443G>T	-	-	p.Arg148Met	-	NA	-	-	CHEK2_00095	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/?	03	c.444+24C>T + c.252A>G, c.319+44insA, c.433C>T, c.470T>C, c.1100delC, c.1375+78C>G, c.1462-211A>G, c.1462-198C>T, c.1462-25A>G	Intron 2 444 + 24C	-	-	-	-	-	-	CHEK2_00008	Substitution	Intron	DNA	DSCA, IHC, PCR, SEQ	tumor tissue	-	-	breast cancer	Kilpivaara et al., 2004, Peikuan Cong	-	1	Inherited	-	Familial	-	Finland	Helsinki,Tampere	-
+?/?	04	c.470T>C + c.-6-5T>A, c.319+1G>A, c.319+24T>C, c.434G>A, c.538C>T	-	-	p.Ile157Thr	-	-	30/631	17/683	CHEK2_00009	Substitution	Exon	DNA	DHPLC, PCR, SEQ	peripheral blood	We observed no association of analysed muta- tions with CRC family history. We conclude that the I157T and other alterations in its prox- imity predispose to sporadic but not to familial CRC in the Czech population.	-	sporadic colorectal cancer	Kleibl et al., 2009, Peikuan Cong	-	1	-	-	-	-	Czech Republic	-	-
-?/?	04	c.470T>C + c.-6-5T>A, c.319+1G>A, c.319+24T>C, c.320-55A>T, c.538C>T, c.1100del	-	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	BESS, mPCR, RT-PCR, SEQ, SSCA	lymphocytes	-	-	sporadic pancreatic cancer	Mohelnikova-Duchonova et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Germany	-	-
+/?	04	c.470T>C + c.-6-5T>A, c.319+1G>T, c.319+24T>C, c.349A>G, c.475T>C, c.514A>G, c.520C>T, c.538C>T, c.541C>T	c.470T>C I157T	-	p.Ile157Thr	-	-	2.82%	2.49%	CHEK2_00009	Substitution	Exon	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-	breast cancer	Kleibl et al., 2008, Peikuan Cong	-	1	-	-	Sporadic	-	Czech	-	-
+?/?	04	c.470T>C + c.7C>T, c.433C>T, c.1100delC	-	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PAGE, PCR, SEQ, Western	tumor	-	-	Li-Fraumeni Syndrome	Lee et al., 2001, Peikuan Cong	-	1	-	-	-	-	American	-	-
?/?	04	c.470T>C + 17 others	-	-	p.Ile157Thr	-	-	13/698	5/423	CHEK2_00009	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling.	-	Prostate Cancer	Dong et al., 2003, Peikuan Cong	our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage	1	-	Male	-	-	USA	-	-
+?/?	04	c.470T>C + c.190G>A, c.349A>G, c.541C>T, c.715G>A, c.961G>A, c.967A>C, c.1100 delC, c.1427C>A	c.470T>C	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	DHPLC, PCR, SEQ, Western	primary prostate tumor tissue	-	-	Prostate Cancer	Wu et al., 2006, Peikuan Cong	-	1	-	-	Sporadic	-	America	Rochester, Minnesota	-
+?/?	04	c.470T>C + c.252A>G, c.433C>T, c.1100delC, c.1425del	-	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	DHPLC, RT-PCR, SEQ	lymphoblasts,fibroblasts	-	-	Li-Fraumeni Syndrome	Bell et al., 1999, Peikuan Cong	-	1	Inherited	-	Familial	-	USA,UK	-	-
+/?	04	c.470T>C + c.252A>G, c.319+44insA, c.433C>T, c.444+24C>T, c.1100delC, c.1375+78C>G, c.1462-211A>G, c.1462-198C>T, c.1462-25A>G	470T	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	IHC, PCR, SEQ	tumor tissue	We found some evidence that the I157T variant is also associated with an increased risk of breast cancer, but the association is weaker than that for 1100delC.	-	breast cancer	Kilpivaara et al., 2004, Peikuan Cong	-	1	Inherited	-	Familial	-	Finland	Helsinki,Tampere	-
+?/?	04	c.470T>C + c.252A>G	470T4C substitution	-	p.Ile157Thr	-	-	1/153	-	CHEK2_00009	Substitution	Exon	DNA	IHC, PCR, SEQ	multiple	somatic mutation	-	stage III breast cancer	Staalesen et al., 2004, Peikuan Cong	-	1	-	-	-	-	Norway	-	-
+/?	04	c.470T>C + c.252A>G, c.319+43_319+44insA, c.1100delC, c.1312G>T	-	-	p.Ile157Thr	-	-	2/120	0/480	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	I157T seems to be a diseaseassociated polymorphism at least in the Finnish population. It has a slightly higher frequency among patients with unselected prostate cancer than among control individuals and it is strongly associated with family history of the disease.	-	hereditary prostate cancer	Sepp?l? et al., 2003, Peikuan Cong	-	1	Inherited	Male	Familial	-	Finland	-	-
+/?	04	c.470T>C + c.319+1G>A, c.715G>A, c.751A>T, c.1100delC	-	-	p.Ile157Thr	-	-	1/456	0/400	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	unknown	-	-	FAMILIAL BREAST CANCER	Dong et al., 2003, Peikuan Cong	-	1	-	-	-	-	Spain	-	-
+/?	04	c.470T>C + c.319+1G>A, c.1100delC	430T>C variant (IleI57Thr)	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	DGGE, PCR	blood	To our knowledge, this is the first identified example of a susceptibility gene for borderline ovarian tumors.	-	ovarian tumor	Szymanska-Pasternak et al., 2006, Peikuan Cong	Ovarian cystadenoma is a benign tumor of the ovarian epithelium with histologic features similar to those of malignant cystadenocarcinoma.	1	-	-	-	-	Poland	-	-
+?/?	04	c.470T>C + c.319+1G>A, c.1100delC	-	-	p.Ile157Thr	-	-	5953	-	CHEK2_00009	Substitution	Exon	DNA	PCR	Blood	The risk of cancer in a carrier of a CHEK2 mutation is dependent on the family history of cancer.	-	Breast/Prostate/Colon Cancer	Gronwald et al. 2009, Peikuan Cong	For breast and prostate cancer, the truncating mutations are associated with higher penetrance than the missense mutation. For colon cancer, only the missense variant I157T is associated with an elevated risk.	1	-	-	-	-	Poland	Polish	-
+?/?	04	c.470T>C + c.319+1G>A, c.1100delC	I157T	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	SEQ	blood	-	-	breast cancer in Poland	Jakubowska et al., 2008, Peikuan Cong	CHEK2 mutations included 1100delC, IVS2 + 1G>A, del5395, I157T,	1	-	-	-	-	Poland	-	-
+?/?	04	c.470T>C + c.319+1G>A, c.1100delC	-	-	p.Ile157Thr	-	-	36/ 463	24/ 5496	CHEK2_00009	Substitution	Exon	DNA	PCR	Unknown	I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland.	-	Hereditary non-polyposis-colorectal cancer et al.	Suchy et al., 2010, Peikuan Cong	-	1	Inherited	-	Familial	-	Poland	-	-
+/?	04	c.470T>C + c.319+1G>A, c.1100del	I157T missense	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	blood	the presence of a CHEK2 mutation in women with a BRCA1 mutation may not increase their risk beyond that of the BRCA1 mutation alone.	-	breast cancer	Cybulski et al., 2009, Peikuan Cong	the risk of breast cancer in carriers of a deleterious CHEK2 mutation is increased if the second allele is the I157T missense variant.	1	-	Female	-	-	Poland	-	-
+/?	04	c.470T>C + c.319+1G>A, c.1100delC	-	-	p.Ile157Thr	-	-	70/788	29/600	CHEK2_00063	Substitution	Exon	DNA	PCR, SEQ	blood	A Novel Founder CHEK2 Mutation is Associated with Increased Prostate Cancer Risk	-	Prostate Cancer	Cybulski et al., 2004, Peikuan Cong	-	1	-	-	-	-	Poland	-	-
?/?	04	c.470T>C + c.319+1G>A, c.1100delC	-	-	p.Ile157Thr	-	-	0/35	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	peripheral blood lymphocytes	In summary, we provide a first hint that the germ line variant CHEK2 * 1100delC might be rarely associated with the predisposition to FPC, but is not a major determinant of the disease. Since our study is underpowered, large well-controlled studies on sporadic and familial PC are needed to determine the risk for PC of CHEK2 founder alleles in different populations.	-	familial pancreatic cancer	Bartsch et al., 2006, Peikuan Cong	Only families with at least two first-degree relatives with PC confirmed by medical and/or histopathological records were selected for the study.	1	Inherited	-	Familial	-	Germany	-	-
+?/?	04	c.470T>C + c.319+1G>A, c.1100delC	-	-	p.Ile157Thr	-	-	288/4454	267/5496	CHEK2_00009	Substitution	Exon	DNA	mPCR, PCR, SEQ	blood	In conclusion, there are (at minimum) four founder alleles of the CHEK2 gene which predispose to breast cancer in Poland, including a 5,395 deletion.	-	breast cancer	Cybulski et al., 2007, Peikuan Cong	-	1	-	-	-	-	Poland	-	-
+?/?	04	c.470T>C + c.319+1G>A, c.1100delC	I157T	-	p.Ile157Thr	-	-	-	306/6391	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	peripheral blood	missense variant observed more frequently in the controls than in the cases	-	lung and laryngeal cancers	Cybulski et al., 2008, Peikuan Cong	-	1	Inherited	-	-	-	poland	-	-
+?/?	04	c.470T>C + c.319+1G>A, c.1100delC	-	-	p.Ile157Thr	-	-	207/3228	264/5496	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	blood	In conclusion, we estimate that f8% of early-onset breast cancers arise in Poland in women with a germ line CHEK2 mutation. Both missense and truncating mutations seem to be pathogenic.	-	Breast Cancers	Cybulski et al., 2011, Peikuan Cong	-	1	-	-	-	-	Poland	-	-
+/?	04	c.470T>C	We have here elucidated the role of CHEK2 I157T in CRC predisposition in Finland.	-	p.Ile157Thr	-	7.8%	76/972	100/1885	CHEK2_00039	Substitution	Exon	DNA	DGGE, PCR	unknown	We have here analysed the incidence of CHEK2 I157T in Finnish CRC patients and found a significant association of CHEK2 I157T with CRC risk.	-	familial and sporadic colorectal cancer	Kilpivaara et al., 2006, Peikuan Cong	-	1	Inherited	-	-	-	Finland	-	-
+/?	04	c.470T>C	common missense variant (I157T)	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PAGE, PCR, SEQ	blood	Several previous observations suggest that the I157T missense mutation is pathogenic	-	breast and prostate cancer	Cybulski et al., 2004, Peikuan Cong	The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.	1	De novo	-	Sporadic	Patient	Poland	-	-
+/?	04	c.470T>C + c.1100delC	T430C	-	p.Ile157Thr	-	-	10/ 170	125	CHEK2_00009	Substitution	Exon	DNA	DHPLC, PCR, SEQ, SSCA	Blood	In patients with CHEK2 gene mutations, breast cancer occurred 2.1	-	Bilateral Breast Cancer	Skasko et al., 2009, Peikuan Cong	The incidence of bilateral breast cancer in human populations is generally estimated at 2	1	Inherited	Female	Familial	-	Poland	-	-
+/?	04	c.470T>C	I157T	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	peripheral EDTA blood	Our results indicate that the I157T missense substitution and probably the IVS211G>A splicing mutation are associated with increased breast cancer risk.	-	breast cancer	Bogdanova et al., 2005, Peikuan Cong	Family history of breast cancer did not differ between carriers and noncarriers. Our data indicate that the I157T allele, and possibly the IVS211G > A allele, of the CHEK2 gene contribute to inherited breast cancer susceptibility.	1	De novo	Female	Sporadic	Patient	Germany	-	-
+/?	04	c.470T>C	I157T	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	blood	the CHEK2 allele I157T was by far the most common (222 times). The second most common allele in controls was CHEK2 IVS + 1G>A mutation (19 times)	-	breast cancer	Go? rski et al., 2005, Peikuan Cong	a higher odds ratio was seen for truncating CHEK2 mutations (OR = 2.1) than for the missense mutation I157T (OR = 1.4). This study suggests that cancer risks may be specific for particular alleles of a susceptibility gene and that these different risks should be taken into account by genetic counselors.	1	De novo	Female	Sporadic	Patient	Poland	-	-
?/?	04	c.470T>C	-	-	p.Ile157Thr	-	-	5/268	11/449	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	peripheral blood	Tumors of I157T carriers showed endometrioid, clear cell, and mucinous morphology, which suggested that the variant may not be restricted to a certain histotype of the disease and could even be overrepresented in rare ones. This study is the first to explore the association between germline CHEK2 I157T and EC. It suggests the need for further large-scale evaluation of the role this variant plays in endometrial carcinogenesis.	-	Endometrial Cancer	Konstantinova et al., 2009, Peikuan Cong	-	1	-	Female	-	-	Bulgaria	-	-
-?/?	04	c.470T>C	missense variation I157T (470T>C) in exon 3	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	CHEK2 is not a target tumor suppressor gene in chromosome 22q in astrocytomas but might possibly play a modifying role along the involved pathways. The present results warrant further studies, also at the germline level.	-	primary glioblastomas	Sallinen et al., 2005, Peikuan Cong	The frequencies of 1100delC and I157T variations in the astrocytomas [1.5% (1/67) for 1100delC and 3.0% (2/67) for I157T] did not differ significantly compared to the Finnish population frequencies (0.4	1	De novo	-	Sporadic	Patient	Finland	-	-
-?/?	04	c.470T>C	I157T	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	peripheral blood & tumor samples	the mutations of the CHEK2 gene that have been associated with breast cancer (del1100C, R3W, R145W, and I157T) are rare in familial breast cancer syndromes in Spain, which confirms the limited relevance of CHEK2 screening in genetic testing.	-	hereditary breast cancer	Bellosillo et al., 2005, Peikuan Cong	CHEK2 acts as a low-penetrance tumor suppressor gene, and that it makes a significant contribution to familial clustering of breast cancer, including families with only two affected relatives	1	Inherited	Female	Familial	-	Spain	-	-
+/?	04	c.470T>C	-	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	SEQ	blood	Our study provides evidence that inherited predisposition to CLL is in part mediated through low-penetrance alleles, specifically variants in the ATM-BRCA2-CHEK2 DNA damage-response axis. Clearly it is, however, desirable to validate our study findings through analysis of additional large datasets.	-	chronic lymphocytic leukemia	Rudd et al., 2011, Peikuan Cong	-	1	-	-	-	-	United Kingdom	-	-
+/?	04	c.470T>C	-	-	p.Ile157Thr	-	33/482	-	-	CHEK2_00009	Substitution	Exon	DNA	SEQ	ductal, lobular, medullary, other	In this study of 482 unselected cases of breast cancer the strongest association was seen for lobular carcinoma and the missense I157T variant.	-	breast cancer	Huzarski et al., 2005, Peikuan Cong	-	1	-	-	-	-	Szczecin, Poland	-	-
+/?	04	c.470T>C	I157T CHEK2 germline mutation	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ	peripheral venous leukocytes	CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot.	-	breast and colon cancer	Kaufman et al., 2009, Peikuan Cong	-	1	-	Female	-	-	Israel	-	-
?/?	04	c.475T>C + c.-6-5T>A, c.319+1G>T, c.319+24T>C, c.349A>G, c.470T>C, c.514A>G, c.520C>T, c.538C>T, c.541C>T	c.475T>C	-	p.Tyr159His	-	-	0.15%	0/683	CHEK2_00068	Substitution	Exon	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-	breast cancer	Kleibl et al., 2008, Peikuan Cong	-	1	-	-	Sporadic	-	Czech	-	-

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Legend: [ CHEK2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Patients: Patients Controls: Controls CHEK2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Type: Type of variant at DNA level. Location: Variant location at DNA level. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Tissue: Tissue type the variant was detected in. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. Remarks: Remarks # Reported: Number of times this case has been reported Mut. origin: Origin of mutation Gender: Patient gender Occurrence: Occurrence De novo origin: If de novo, origin of mutation Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Population: Patient population

Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

checkpoint kinase 2 (CHEK2)