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The variants below are all in the CDH1 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 CDH1, 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 CDH1 full legend here.

220 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.-160C>A	-	-	-	-	0.02	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ, Southern	blood	The OR of CC, CA and AA is 1.0, 1.6 and 3.9 respectively.	-	Gastric cancer	Jenab et al., 2008, Peikuan Cong	-	1	Inherited	-	Familial	-	Europe	-	-
?/+	00	c.-160C>A	Promoter c-160a	-	-	-	-	748	-	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ	blood	No effect on survival by polymorphisms in any of these genes was observed	-	breast cancer	Goode et al., 2002, Peikuan Cong	all cases of invasive breast cancer diagnosed at <65 years of age since the beginning of the study on July 1, 1996 (incident cases); and (b) all cases diagnosed at <55 years of age since January 1, 1991 who were still alive at the beginning of the study	1	-	-	Sporadic	-	England	-	-
-?/+?	00	c.-160C>A + 10 others	-	-	-	-	-	17/32 family menbers	63/114	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ, SSCA	blood	-	-	Gastric Cancer	Oliveira et al., 2002, Peikuan Cong	Evidence to support the existence of inher-ited susceptibility to gastric cancer until recently was only indirect, based on clinical and epidemiological observations.	1	Inherited	-	Familial	-	UK	-	-
?/+	00	c.-160C>A	-	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ	whole blood	-	-	familial colorectal cancer	Grunhage et al., 2008, Peikuan Cong	-	1	-	-	-	-	Germany	-	-
+/+	00	c.-160C>A + c.-347_-348insA, c.*56T>C	-	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	IHC, PCR, SEQ	peripheral blood	-	-	-	Jun Liang et al, 2008, Peikuan Cong	-	1	-	-	-	-	china	-	-
?/+	00	c.-160C>A + c.-347_-348insA	-	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ	unknow	-	-	gastric cancer	GAO et al, 2008, Peikuan Cong	-	1	-	-	-	-	German	-	-
?/+	00	c.-160C>A + c.-347_-348insA	-	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ	unknow	-	-	gastric cancer	Marie Loh et al, 2009, Peikuan Cong	-	1	-	-	-	-	Singapore	-	-
?/+?	00	c.-160C>A + c.-347_-348insA	-	-	-	-	-	54.9%	56.3%	CDH1_00086	Substitution	5' UTR	DNA	PCR, SEQ	blood	-	-	ESCC	Zhang et al., 2005, Peikuan Cong	CDH1基因与ESCC肿瘤侵袭转移密切相关	1	De novo	-	-	-	China	-	-
-?/+	01	c.-347_-348insA + c.-160C>A, c.*56T>C	c.-348_-347insA	-	-	-	-	-	-	CDH1_00165	Insertion	5' UTR	DNA	IHC, PCR, Southern	peripheral blood	-	-	-	Jun Liang et al, 2008, Peikuan Cong	-	1	-	-	-	-	china	-	-
?/+	01	c.-347_-348insA + c.-160C>A	c.-348_-347insA	-	-	-	-	-	-	CDH1_00073	Duplication	5' UTR	DNA	PCR, SEQ	unknow	-	-	gastric cancer	GAO et al, 2008, Peikuan Cong	-	1	-	-	-	-	German	-	-
?/+	01	c.-347_-348insA + c.-160C>A	c.-348_-347insA	-	-	-	-	-	-	CDH1_00073	Duplication	5' UTR	DNA	PCR, SEQ	unknow	-	-	gastric cancer	Marie Loh et al, 2009, Peikuan Cong	-	1	-	-	-	-	Singapore	-	-
+?/+?	01	c.-347_-348insA + c.-160C>A, c.*54C>T	c.-348_-347insA	-	-	TfiI, HinfI	-	-	-	CDH1_00171	Substitution	5' UTR	DNA	PCR	blood	-	-	ESCC and CCA	Zhang et al., 2008, Peikuan Cong	-	1	Inherited	-	Familial	-	China	-	-
-?/+	01	c.-347_-348insA	c.-347_-346insA	-	-	Ban II	-	137/290	141/335	CDH1_00172	Insertion	5' UTR	DNA	PCR, SEQ	blood	We found that the GA-allele did not increase the risk of CRC compared with the G-allele	-	colorectal cancer	Zou et al., 2009, Peikuan Cong	Colorectal cancer (CRC) is one of the most common cancers in Western countries[1], and is becoming more prevalent in Asian countries, especially China	1	De novo	-	Sporadic	-	China	-	-
?/+	01	c.-347_-348insA + c.-160C>A	c.-348_-347insA	-	-	-	-	25.1%	24.2%	CDH1_00087	Duplication	Exon	DNA	PCR, SEQ	blood	-	-	ESCC	Zhang et al., 2005, Peikuan Cong	CDH1基因与ESCC肿瘤侵袭转移密切相关	1	De novo	-	-	-	China	-	-
+?/+	01	c.-161C>A	-	-	-	-	-	-	-	CDH1_00170	Substitution	5' UTR	DNA	PCR	blood	-	-	Prostate cancer	Wiklund et al., 2005, Peikuan Cong	-	1	Inherited	-	Familial	-	Sweden	-	-
?/+?	01	c.-161C>A + c.163+27297A>G, c.388-3064G>T, c.687+144G>A, c.2076T>C, c.2439+52G>A, c.*54C>T	rs16260	-	-	-	-	31/56	189/361	CDH1_00170	Substitution	5' UTR	DNA	PCR, SEQ	blood	-	-	primary gastric diffuse large B-cell lymphoma	Jacobs et al., 2011, Peikuan Cong	Background Primary gastric B-cell lymphomas arise from mucosa-associated lymphatic tissue (MALT) in patients with chronic Helicobacter pylori infection	1	-	-	Sporadic	-	German and Australia	-	-
?/+?	01	c.-160C>A + c.-347_-348insA, c.*54C>T	c.-160C>A	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR	blood	-	-	ESCC and CCA	Zhang et al., 2008, Peikuan Cong	-	1	Inherited	-	Familial	-	China	-	-
?/+	01	c.-160C>A	rs16260	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR	blood	-	-	non-syndromic orofacial clefts	Song et al., 2010, Peikuan Cong	-	1	-	-	-	-	China	-	-
?/+	01	c.-160C>A	-	-	-	-	-	-	0/699	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ, SSCA	blood	Our data indicate that the 160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably heredi-tary prostate cancer.	-	prostate cancer	Jonsson et al., 2004, Peikuan Cong	Prostate cancer is the most frequently diagnosed malignancy among men in industria lized countries. Established risk factors forprostate cancer include age, ethnicity, country of origin and family history.	1	Inherited	-	Familial	-	Sweden	-	-
?/-?	01	c.-160C>A + c.-73C>A, c.178T>C	c.-160C>A	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ	blood	-	-	-	Xin Ma et al, 2008, Peikuan Cong	-	1	-	-	-	-	china	-	-
?/-?	01	c.-73C>A + c.-160C>A, c.178T>C	-	-	-	-	-	-	-	CDH1_00155	Substitution	Exon	DNA	PCR, SEQ	blood	-	-	-	Xin Ma et al, 2008, Peikuan Cong	-	1	-	-	-	-	china	-	-
?/-?	01	c.-71C>G + c.687+92T>A, c.1003C>T, c.1774G>A, c.1937-13T>C, c.2076T>C, c.2329G>A	-	-	-	-	-	-	-	CDH1_00164	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	Prostate Cancer, Gastric Cancer AND Bresst Cancer	JONSSON et al., 2002, Peikuan Cong	Somatic mutations in the E-cadherin (CDH1) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers.	1	Inherited	-	Familial	-	Sweden	-	-
+?/+?	01	c.? + 10 others	g.1881_1888del	-	-	-	-	1	-	CDH1_00173	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
?/+	01	c.44dup + 26 others	45insT	-	p.Gln16AlafsX18	-	-	-	-	CDH1_00158	Duplication	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
-?/+?	01	c.48+5C>G + 10 others	IVS1+5C>G	-	-	-	-	1/28 family members	0/100	CDH1_00078	Substitution	Intron	DNA	PCR, SEQ, Southern, SSCA	blood	-	-	Gastric Cancer	Oliveira et al., 2002, Peikuan Cong	Evidence to support the existence of inher-ited susceptibility to gastric cancer until recently was only indirect, based on clinical and epidemiological observations.	1	Inherited	-	Familial	-	UK	-	-
?/+	01	c.49_50insAG + 10 others	Codon 17 Frameshift 50insAG	-	p.Val17GlufsX40	-	-	-	-	CDH1_00103	Insertion	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-	Lobular carcinoma of the breast	Sarrio et al., 2003, Peikuan Cong	accounts for 10	1	-	-	-	-	Spain	-	-
+/+	02	c.49-2A>C + c.353C>G , c.715G>A , c.1107delC , c.1137G>A , c.1397_1398del, c.1901C>T, c.2095C>T, c.2440-6C>G	-	-	-	-	-	-	-	CDH1_00095	Substitution	Intron	DNA	RT-PCR, SEQ	blood	-	-	-	More et al, 2007 , Peikuan Cong	-	1	-	-	-	-	New Zealand	-	-
?/+	02	c.49-2A>G + 26 others	-	-	-	-	-	-	-	CDH1_00031	Substitution	Intron	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
+?/+	02	c.49_163del + 10 others	out-of-frame deletions of exon 2	-	p.Val17X	-	-	1	-	CDH1_00157	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
?/+	02	c.54del + c.1565+1G>T, c.1710delT, c.1792C>T, c.2295+5G>A	53delC	-	p.Ser19LeufsX37	-	-	-	-	CDH1_00167	Deletion	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	Diffuse Gastric Cancer	Humar et al.,2002, Peikuan Cong	Hereditary diffuse gastric cancer (HDGC) is a recently defined cancer syndrome caused by inactivating, heterozygous germline mutations in the gene for the cell-to-cell adhesion protein E-cadherin (CDH1).	1	Inherited	-	Familial	-	New Zealand	-	-
?/+	02	c.54delC + 26 others	-	-	p.Ser19LeufsX37	-	-	-	-	CDH1_00032	Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
+?/+	02	c.59G>A + 10 others	-	-	p.Trp20X	-	-	1	-	CDH1_00033	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
?/+	02	c.59G>A + 26 others	-	-	p.Trp20X	-	-	-	-	CDH1_00033	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
+?/+	02	c. 67C>T + 10 others	-	-	p.Gln23X	-	-	1	-	CDH1_00003	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
?/+	02	c.70G>T + 26 others	-	-	p.Glu24X	-	-	-	-	CDH1_00034	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	02	c.70G>T + c.190C>T, c.586G>T, c.1137+1G>A , c.1488_1494del, c.1588dupC	-	-	p.Glu24X	-	-	-	-	CDH1_00034	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	Diffuse Gastric cancer	Guilford et al., 1999, Peikuan Cong	The 5-year survival rates for gastric cancer remain low in Western countries, ranging from 20	1	Inherited	-	Familial	-	New Zealand	-	-
?/+?	02	c.88C>A + 10 others	-	-	p.Pro30Thr	-	-	-	-	CDH1_00102	Substitution	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-	Lobular carcinoma of the breast	Sarrio et al., 2003, Peikuan Cong	accounts for 10	1	-	-	-	-	Spain	-	-
+/?	02	c.88C>A	-	-	p.Pro30Thr	-	NA	-	-	CDH1_00102	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/+?	02	c.163+21T>C + 10 others	c.163+21C>T	-	-	-	-	-	-	CDH1_00104	Substitution	Intron	DNA	PCR, SEQ, SSCA	tumor sample	-	-	Lobular carcinoma of the breast	Sarrio et al., 2003, Peikuan Cong	accounts for 10	1	-	-	-	-	Spain	-	-
?/-?	02	c.163+27297A>G + c.-161C>A, c.388-3064G>T, c.687+144G>A, c.2076T>C, c.2439+52G>A, c.*54C>T	rs1559366	-	-	-	-	22/56	115/361	CDH1_00089	Substitution	Intron	DNA	PCR, SEQ	blood	-	-	primary gastric diffuse large B-cell lymphoma	Jacobs et al., 2011, Peikuan Cong	Background Primary gastric B-cell lymphomas arise from mucosa-associated lymphatic tissue (MALT) in patients with chronic Helicobacter pylori infection	1	-	-	Sporadic	-	German and Australia	-	-
+?/+	03	c.164_387del + 10 others	-	-	p.Val55GlyfsX38	-	-	1	-	CDH1_00004	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
?/+?	03	c.178T>C + c.-160C>A, c.-73C>A	-	-	p.Cys60Arg	-	-	-	-	CDH1_00153	Substitution	Exon	DNA	PCR, SEQ	blood	-	-	-	Xin Ma et al, 2008, Peikuan Cong	-	1	-	-	-	-	china	-	-
?/+?	03	c.185G>T + 26 others	-	-	p.Gly62Val	-	-	-	-	CDH1_00035	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	03	c.187C>T + 26 others	-	-	p.Arg63X	-	-	-	-	CDH1_00036	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	03	c.190C>T + 26 others	-	-	p.Gln64X	-	-	-	-	CDH1_00037	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	03	c.190C>T + c.70G>T, c.586G>T, c.1137+1G>A , c.1488_1494del, c.1588dupC	-	-	p.Gln64X	-	-	-	-	CDH1_00037	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	Diffuse Gastric cancer	Guilford et al., 1999, Peikuan Cong	The 5-year survival rates for gastric cancer remain low in Western countries, ranging from 20	1	Inherited	-	Familial	-	New Zealand	-	-
+/?	03	c.214G>A	-	-	p.Asp72Asn	-	NA	-	-	CDH1_00121	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/+	03	c.283C>T + 26 others	-	-	p.Gln95X	-	-	-	-	CDH1_00024	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	03	c.283C>T + c.1582delG	-	-	p.Gln95X	-	-	-	-	CDH1_00024	Substitution	Exon	DNA	IHC, PCR, SEQ	blood,tumor	-	-	invasive lobular breast cancer	Xie et al., 2011, Peikuan Cong	-	1	Inherited	-	Familial	-	France	-	-
?/+	03	c.283C>T	-	-	p.Gln95X	-	-	4/ one family	-	CDH1_00024	Substitution	Exon	DNA	PCR, SEQ, SSCA	white blood cells	plays a crucial role in epithelial cell adhesion, probably explains the clinical expression in this type of familial diffuse gastric cancer.	-	gastric linitis gastric linitis	Dussaulx-Garin et al., 2001, Peikuan Cong	Familial gastric cancer is uncommon. With the exception of cases with an associated Lynch syndrome, no specific gene mutation was described in familial gastric cancer until 1998.	1	Inherited	-	Familial	-	France	-	-
+/?	03	c.331del	c.328delT	-	p.Ser111ProfsX6	-	NA	-	-	CDH1_00152	Deletion	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/-?	03	c.345G>A + c.531+10G>C, c.1680G>C, c.1896C>T, c.2076T>C, c.2253C>T, c.2637C>T	-	-	p.Thr115Thr	-	-	-	-	CDH1_00067	Substitution	Exon	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-	human carcinoma	Berx et al., 1997, Peikuan Cong	The expression of the invasion suppressor E-cadherin has been found to be frequently downregulated in a variety of human carcinomas.	1	-	-	-	-	Belgium	-	-
+/+?	03	c.353C>G + c.49-2A>C , c.715G>A , c.1107delC , c.1137G>A , c.1397_1398del, c.1901C>T, c.2095C>T, c.2440-6C>G	-	-	p.Thr118Arg	-	-	-	-	CDH1_00058	Substitution	Exon	DNA	RT-PCR, SEQ	blood	-	-	-	More et al, 2007 , Peikuan Cong	-	1	-	-	-	-	New Zealand	-	-
+/+?	03	c.353C>G + 10 others	-	-	p.Thr118Arg	-	-	-	-	CDH1_00058	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-	Hereditary Diffuse Gastric Cancer	Mateus et al, 2009, Peikuan Cong	-	1	-	-	-	-	Portugal	-	-
?/+?	03	c.353C>G + 13 others	-	-	p.Thr118Arg	-	-	-	0/100	CDH1_00058	Substitution	Exon	DNA	SEQ	DNA sample	-	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-
+?/+?	03	c. 367C>T + 10 others	-	-	p.His123Tyr	-	-	1	-	CDH1_00005	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
+/?	03	c.371G>A	-	-	p.Arg124His	-	NA	-	-	CDH1_00123	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/+	03	c.377del + 26 others	372-377del1	-	p.Pro126ArgfsX89	-	-	-	-	CDH1_00038	Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	03	c.377delC + c.382dup, c.846G>A, c.866_867del, c.866_867delCG, c.1891_1892insAC, c.2440-1G>C	c.372delC	-	p.Pro126ArgfsX89	-	-	1/108	-	CDH1_00017	Deletion	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-	breast cancer	LEI et al., 2002, Peikuan Cong	E-cadherin was suggested to act as an invasion and metastasis suppressor since its loss in benign tumors could lead to a rapid progression into invasive, metastatic carcinomas. Mutation analysis of the coding region has been carried out in endometrial and ovarian carcinomas, thyroid,prostate,bladder,colorectal,gastric,breast	1	-	Female	Sporadic	-	Europe	-	-
?/+	03	c.377dup + 10 others	Codon 127 Frameshift 372insC	-	p.Pro127AlafsX41	-	-	-	-	CDH1_00105	Duplication	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-	Lobular carcinoma of the breast	Sarrio et al., 2003, Peikuan Cong	accounts for 10	1	-	-	-	-	Spain	-	-
?/+	03	c.382dup + c.377delC, c.846G>A, c.866_867del, c.866_867delCG, c.1891_1892insAC, c.2440-1G>C	c.378_379insC	-	p.His128ProfsX40	-	-	1/108	-	CDH1_00018	Duplication	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-	breast cancer	LEI et al., 2002, Peikuan Cong	E-cadherin was suggested to act as an invasion and metastasis suppressor since its loss in benign tumors could lead to a rapid progression into invasive, metastatic carcinomas. Mutation analysis of the coding region has been carried out in endometrial and ovarian carcinomas, thyroid,prostate,bladder,colorectal,gastric,breast	1	-	Female	Sporadic	-	Europe	-	-
?/-?	04	c.388-3064G>T + c.-161C>A, c.163+27297A>G, c.687+144G>A, c.2076T>C, c.2439+52G>A, c.*54C>T	rs10431923	-	-	-	-	17/56	98/361	CDH1_00090	Substitution	Intron	DNA	PCR, SEQ	blood	-	-	primary gastric diffuse large B-cell lymphoma	Jacobs et al., 2011, Peikuan Cong	Background Primary gastric B-cell lymphomas arise from mucosa-associated lymphatic tissue (MALT) in patients with chronic Helicobacter pylori infection	1	-	-	Sporadic	-	German and Australia	-	-
+/?	04	c.394G>A	-	-	p.Val132Ile	-	NA	-	-	CDH1_00124	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+?/+	04	c.471_531+2del + 10 others	c.469_531del	-	p.Val157_Gln177del	-	-	1	-	CDH1_00006	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
?/+?	04	c.515C>G + 13 others	-	-	p.Pro172Arg	-	-	-	0/212	CDH1_00117	Substitution	Exon	DNA	SEQ	DNA sample	the sole mutation for which a disruptive effect on the protein conformation was predicted.	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-
?/-?	04	c.531+10G>C + 10 others	IVS4+10G>C	-	=	-	-	2/34 family members	not done	CDH1_00012	Substitution	Intron	DNA	PCR, SEQ, Southern, SSCA	blood	-	-	Gastric Cancer	Oliveira et al., 2002, Peikuan Cong	Evidence to support the existence of inher-ited susceptibility to gastric cancer until recently was only indirect, based on clinical and epidemiological observations.	1	Inherited	-	Familial	-	UK	-	-
?/-?	04	c.531+10G>C + c.345G>A, c.1680G>C, c.1896C>T, c.2076T>C, c.2253C>T, c.2637C>T	-	-	-	-	-	-	-	CDH1_00012	Substitution	Intron	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-	human carcinoma	Berx et al., 1997, Peikuan Cong	The expression of the invasion suppressor E-cadherin has been found to be frequently downregulated in a variety of human carcinomas.	1	-	-	-	-	Belgium	-	-
-?/-?	04	c.531+10G>C + c.1937-13T>C	-	-	-	-	-	3/43	7/30	CDH1_00012	Substitution	Intron	DNA	PCR, SEQ, SSCA	tumor	-	-	early onset colorectal cancer (EOCRC)	Laiou et al., 2001, Peikuan Cong	Loss of E-cadherin function leads to increased cell mobility and increased activity of the β-catenin/TCF.FAP has a characteristic phenotype with profuse colorectal polyposis.HNPCC is characterised by early onset CRC and, in some kindreds, endometrial, gastric, ovarian, pancreatic, and urinary tract cancers transcription factor complex in the nucleus.	1	-	-	Sporadic	-	England	-	-
?/+	05	c.586G>T + 26 others	-	-	p.Gly196X	-	-	-	-	CDH1_00039	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+	05	c.586G>T + c.70G>T, c.190C>T, c.1137+1G>A , c.1488_1494del, c.1588dupC	-	-	p.Gly196X	-	-	-	-	CDH1_00039	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	Diffuse Gastric cancer	Guilford et al., 1999, Peikuan Cong	The 5-year survival rates for gastric cancer remain low in Western countries, ranging from 20	1	Inherited	-	Familial	-	New Zealand	-	-
+/?	05	c.602C>G	-	-	p.Pro201Arg	-	NA	-	-	CDH1_00125	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
+?/+	05	c.612_620del + 10 others	-	-	p.Phe205_Ile207del	-	-	1	-	CDH1_00007	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-	lobular breast carcinoma and gastric carcinoma	Becker et al., 1998, Peikuan Cong	Invasive lobular breast carcinoma and diffuse-type gastric carcinoma are histologically characterized by tumor cells exhibiting markedly reduced homophilic cell-to-cell interactions, resulting in a scattered growth pattern. In both malignancies single isolated tumor cells invade the surrounding fibrous tissue without forming a glandular structure	1	-	-	Sporadic	-	German and Dutch	-	-
+/+	05	c.641T>C + 10 others	-	-	p.Leu214Pro	-	-	-	-	CDH1_00059	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-	Hereditary Diffuse Gastric Cancer	Mateus et al, 2009, Peikuan Cong	-	1	-	-	-	-	Portugal	-	-
?/+?	05	c.641T>C + 13 others	-	-	p.Leu214Pro	-	-	-	0/100	CDH1_00059	Substitution	Exon	DNA	SEQ	DNA sample	-	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-
?/-?	05	c.687+92T>A + c.-71C>G, c.1003C>T, c.1774G>A, c.1937-13T>C, c.2076T>C, c.2329G>A	-	-	-	-	-	-	-	CDH1_00074	Substitution	Intron	DNA	PCR, SEQ, SSCA	blood	-	-	Prostate Cancer, Gastric Cancer AND Bresst Cancer	JONSSON et al., 2002, Peikuan Cong	Somatic mutations in the E-cadherin (CDH1) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers.	1	Inherited	-	Familial	-	Sweden	-	-
?/-?	05	c.687+144G>A + c.-161C>A, c.163+27297A>G, c.388-3064G>T, c.2076T>C, c.2439+52G>A, c.*54C>T	rs7188750	-	-	-	-	37/56	255/361	CDH1_00091	Substitution	Intron	DNA	SEQ	blood	-	-	primary gastric diffuse large B-cell lymphoma	Jacobs et al., 2011, Peikuan Cong	Background Primary gastric B-cell lymphomas arise from mucosa-associated lymphatic tissue (MALT) in patients with chronic Helicobacter pylori infection	1	-	-	Sporadic	-	German and Australia	-	-
+/+?	06	c.715G>A + c.49-2A>C , c.353C>G , c.1107delC , c.1137G>A , c.1397_1398del, c.1901C>T, c.2095C>T, c.2440-6C>G	-	-	p.Gly239Arg	-	-	-	-	CDH1_00096	Substitution	Exon	DNA	RT-PCR, SEQ	blood	-	-	-	More et al, 2007 , Peikuan Cong	-	1	-	-	-	-	New Zealand	-	-
?/+?	06	c.715G>A + 13 others	-	-	p.Gly239Arg	-	-	-	0/100	CDH1_00096	Substitution	Exon	DNA	SEQ	DNA sample	-	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-
?/-?	06	c.715G>C + 10 others	-	-	p.Gly239Arg	-	-	-	-	CDH1_00060	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-	Hereditary Diffuse Gastric Cancer	Mateus et al, 2009, Peikuan Cong	-	1	-	-	-	-	Portugal	-	-
+/?	06	c.724G>A	-	-	p.Val242Ile	-	NA	-	-	CDH1_00126	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
?/+?	06	c.731A>G + 26 others	-	-	p.Asp244Gly	-	-	-	-	CDH1_00040	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+?	06	c.731A>G + 13 others	-	-	p.Asp244Gly	-	-	-	-	CDH1_00040	Substitution	Exon	DNA	SEQ	DNA sample	-	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-
?/+	06	c.731A>G + c.1460T>C	-	-	p.Asp244Gly	-	-	-	-	CDH1_00040	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood leucocytes	-	-	gastric cancer	Yoon., 1999, Peikuan Cong	gastric cancer is the most cause of cancer death world wild and most common form of cancer in Korea	1	Inherited	-	Familial	-	Korea	-	-
?/+?	06	c.832G>A + 26 others	-	-	p.Gly278Arg	-	-	-	-	CDH1_00041	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
+/+	07	c.833-2A>G	-	-	-	-	-	-	-	CDH1_00002	Substitution	Intron	DNA	RT-PCR, SEQ	blood	we have identified a novel CDH1 mutation in a large hereditary diffuse gastric cancer kindred and identified its pathogenic mechanism.	-	Hereditary diffuse gastric cancer	Matsukuma et al., 2010, Peikuan Cong	-	1	De novo	-	Familial	Grandfather	USA	-	-
?/+?	07	c.846G>A + c.377delC, c.382dup, c.866_867del, c.866_867delCG, c.1891_1892insAC, c.2440-1G>C	-	-	p.Met282Ile	-	-	1/108	-	CDH1_00019	Substitution	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	One missense mutation in exon 7 occurred in the region encoding 1 of the 5 extracellular domains containing Ca2+ binding motifs.	-	breast cancer	LEI et al., 2002, Peikuan Cong	E-cadherin was suggested to act as an invasion and metastasis suppressor since its loss in benign tumors could lead to a rapid progression into invasive, metastatic carcinomas. Mutation analysis of the coding region has been carried out in endometrial and ovarian carcinomas, thyroid,prostate,bladder,colorectal,gastric,breast	1	-	Female	Sporadic	-	Europe	-	-
?/+	07	c.862_867delinsA + 10 others	862	-	p.Asp288ArgfsX3	-	-	-	-	CDH1_00162	Insertion/Deletion	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-	Lobular carcinoma of the breast	Sarrio et al., 2003, Peikuan Cong	accounts for 10	1	-	-	-	-	Spain	-	-
?/+	07	c.866_867del + c.377delC, c.382dup, c.846G>A, c.866_867delCG, c.1891_1892insAC, c.2440-1G>C	-	-	p.Ala289GlyfsX3	-	-	1/108	-	CDH1_00169	Deletion	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-	breast cancer	LEI et al., 2002, Peikuan Cong	E-cadherin was suggested to act as an invasion and metastasis suppressor since its loss in benign tumors could lead to a rapid progression into invasive, metastatic carcinomas. Mutation analysis of the coding region has been carried out in endometrial and ovarian carcinomas, thyroid,prostate,bladder,colorectal,gastric,breast	1	-	Female	Sporadic	-	Europe	-	-
?/+	07	c.866_867delCG + c.377delC, c.382dup, c.846G>A, c.866_867del, c.1891_1892insAC, c.2440-1G>C	-	-	p.Ala289GlyfsX3	-	-	1/108	-	CDH1_00022	Deletion	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-	breast cancer	LEI et al., 2002, Peikuan Cong	E-cadherin was suggested to act as an invasion and metastasis suppressor since its loss in benign tumors could lead to a rapid progression into invasive, metastatic carcinomas. Mutation analysis of the coding region has been carried out in endometrial and ovarian carcinomas, thyroid,prostate,bladder,colorectal,gastric,breast	1	-	Female	Sporadic	-	Europe	-	-
?/+?	07	c.892G>A + 10 others	-	-	p.Ala298Thr	-	-	-	-	CDH1_00061	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-	Hereditary Diffuse Gastric Cancer	Mateus et al, 2009, Peikuan Cong	-	1	-	-	-	-	Portugal	-	-
?/+?	07	c.892G>A + 13 others	-	-	p.Ala298Thr	-	-	-	0/100	CDH1_00118	Substitution	Exon	DNA	SEQ	DNA sample	-	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-
+/?	07	c.892G>A	-	-	p.Ala298Thr	-	NA	-	-	CDH1_00061	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-
-?/+?	07	c.918C>T + 10 others	-	-	p.Ser306Ser	-	-	1/34 family members	not done	CDH1_00080	Substitution	Exon	DNA	PCR, SEQ, Southern, SSCA	blood	-	-	Gastric Cancer	Oliveira et al., 2002, Peikuan Cong	Evidence to support the existence of inher-ited susceptibility to gastric cancer until recently was only indirect, based on clinical and epidemiological observations.	1	Inherited	-	Familial	-	UK	-	-
?/+	07	c.1003C>T + c.-71C>G, c.687+92T>A, c.1774G>A, c.1937-13T>C, c.2076T>C, c.2329G>A	-	-	p.Arg335X	-	-	-	-	CDH1_00028	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-	Prostate Cancer, Gastric Cancer AND Bresst Cancer	JONSSON et al., 2002, Peikuan Cong	Somatic mutations in the E-cadherin (CDH1) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers.	1	Inherited	-	Familial	-	Sweden	-	-
+?/+	07	c.1003C>T	-	-	p.Arg335X	-	-	6/ a family	-	CDH1_00028	Substitution	Exon	DNA	DHPLC, PCR	blood	-	-	Hereditary diffuse gastric cancer(HDGC)	Norton et al., 2007, Peikuan Cong	-	1	Inherited	-	Familial	-	USA	-	-
?/+?	07	c.1008G>T + 26 others	-	-	p.Glu336Asp	-	-	-	-	CDH1_00042	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+?	07	c.1008G>T + c.1409C>T, c.1937-13T>C, c.2076T>C, c.2095C>T, c.2386dup	-	-	p.Glu336Asp	-	-	-	-	CDH1_00042	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric cancer	Guilford et al., 1998, Peikuan Cong	The age of death from gastric cancer ranges upwards from 14 years of age, with the majority of cases occurring in people under the age of 40.	1	Inherited	-	Familial	-	New Zealand	-	-
?/+?	08	c.1018A>G + 26 others	-	-	p.Thr340Ala	-	-	-	-	CDH1_00043	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-	gastric carcinoma	Wang et al., 2004, Peikuan Cong	Gastric carcinoma is one of the leading causes of cancer mortality in many countries, especially in most Asian countries.	1	Inherited	-	Familial	-	China	-	-
?/+?	08	c.1018A>G + 10 others	-	-	p.Thr340Ala	-	-	-	-	CDH1_00043	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-	Hereditary Diffuse Gastric Cancer	Mateus et al, 2009, Peikuan Cong	-	1	-	-	-	-	Portugal	-	-
?/+?	08	c.1018A>G + 13 others	-	-	p.Thr340Ala	-	-	-	0/50	CDH1_00043	Substitution	Exon	DNA	SEQ	DNA sample	-	-	Hereditary diffuse gastric cancer	Suriano et al., 2006, Peikuan Cong	an autosomal, dominant, inherited gastric cancer susceptibility syndrome	1	Inherited	-	Familial	-	-	-	-

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Legend: [ CDH1 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 CDH1 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)

cadherin 1, type 1, E-cadherin (epithelial) (CDH1)