Table 3 Germline CDH1 variants identified in the 243-case Japanse and trans-ethnic GCs in a recent report

From: Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations

CDH1 variants	Exon	Domain	HDGC^a		ClinVar	Polyphen2 (HumDiv)	Japanese 243 GCs^b			Korean population^c		TCGA non-Asian 212 GCs	Japanese 105 DGCs	TCGA non-Asian 62 DGCs	DGC: Japanese vs. non-Asian	Japanese ToMMo 1070 individuals	Japanese DGC vs. ToMMo	1000 Genomes EAS 504 individuals	1000 Genomes EUR 503 individuals	1000 Genome EAS vs. EUR
CDH1 variants	Exon	Domain	HDGC^a		ClinVar	Polyphen2 (HumDiv)	Age	Lauren’s classification	Family history of cancers	Age	Lauren’s classification	TCGA non-Asian 212 GCs	Japanese 105 DGCs	TCGA non-Asian 62 DGCs	DGC: Japanese vs. non-Asian	Japanese ToMMo 1070 individuals	Japanese DGC vs. ToMMo	1000 Genomes EAS 504 individuals	1000 Genomes EUR 503 individuals	1000 Genome EAS vs. EUR
p.G62V	Exon 3	Precursor region	◯	Ref. # [83]	Uncertain significance	Probably damaging	80s	IGC	Yes				1			3
p.G62V	Exon 3	Precursor region	◯	Ref. # [83]	Uncertain significance	Probably damaging	60s	DGC	No				1			3
p.K182N	Exon 5	Extracellular domain	◯	Ref. # [89]	Conflicting interpretations of pathogenicity	benign				30s	DGC					1		1
										40s	DGC
										50s	DGC
p.S270A	Exon 6	Extracellular domain			Conflicting interpretations of pathogenicity	benign						1
p.T340A	Exon 8	Extracellular domain	◯	Ref. # [89, 90, 92]	Benign	benign	80s	DGC	Yes				2			6		1
							60s	DGC	No
										30s	DGC
p.T529A	Exon 11	Extracellular domain	◯	Ref. # [89]	Conflicting interpretations of pathogenicity	benign				30s	DGC
p.A592T	Exon 12	Extracellular domain			Benign	Probably damaging						5		1					2
p.L630V	Exon 12	Extracellular domain			Benign	Probably damaging	70s	DGC	Yes				4			9		6
							70s	DGC	No
							80s	IGC	Yes
							60s	DGC	No
							80s	DGC	Yes
							60s	IGC	Yes #
										60s	DGC
p.D777N	Exon 15	Cytoplasmic domain			Conflicting interpretations of pathogenicity	Probably damaging						1
p.V832M	Exon 16	Cytoplasmic domain	◯	Ref. # [86, 92]	Benign	Probably damaging	90s	DGC	No				6			10		2
							50s	DGC	Yes
							50s	DGC	Yes
							60s	IGC	No
							60s	DGC	No
							50s	DGC	Yes #
							60s	DGC	Yes
										70s	IGC
p.K870R	Exon 16	Cytoplasmic domain			Not found	benign						1		1
p.E880K	Exon 16	Cytoplasmic domain	◯	Ref. # [89]	Conflicting interpretations of pathogenicity	Probably damaging	30s	DGC	Yes				1			7		2
										30s	DGC
										30s	DGC
							18 (7.41%)					8 (3.77%)	14 (13.33%)	2 (3.23%)	4.13-fold	36 (3.36%)	3.96-fold	12 (2.38%)	2 (0.40%)	5.99-fold

Germline CDH1 variants discovered in a recent report [Ref. #32] are listed. Mixed type GCs in the Lauren classification were categorized as DGC
DGC diffuse-type GC, IGC intestinal-type GC, EAS east Asian, EUR Europian populations
Lauren’s classification (if DGC), family history (if Yes), and GC case numbers among east Asians are highlighted as bold.
^aReported in GC cases that met clinical criteria of HDGC such as strong femilial aggregation and/or extremely early onsets [Ref. #83, 86, 89, 90, 92]
^bData from a recent study of large-scale trans-ethnic GCs [Ref. #32]
^cCombined data from TCGA (Korean) and a large-scale Korean study of early onset GCs [Ref. #89]

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Table 3 Germline CDH1 variants identified in the 243-case Japanse and trans-ethnic GCs in a recent report

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