Novel CDH1 germline mutations identified in Chinese gastric cancer patients

doi:10.3748/wjg.v19.i6.909

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Feb 14, 2013; 19(6): 909-916
Published online Feb 14, 2013. doi: 10.3748/wjg.v19.i6.909

Table 3 Polymorphisms identified in CDH1 in Chinese gastric cancer patients and controls

Gene location	Sequence variant	Condon	MAF in 236 GC patients	MAF in 240 controls	Reported MAF¹
Promoter	-164del T(g.4837delT)	-	0.004del T	0.000del T	rs5030658: NA
Promoter	-161C>A(g.4840C>A)	-	0.242A	0.227A	rs16260: 0.227A
Promoter	-73A>C (g.4928A>C)	-	0.129C	0.146C	rs28372783: 0.040C
Intron 1	c.48+6C>T	-	0.280C	0.271C	rs3743674: 0.214C
Intron1	c.48+62_48+63delinsCGTGCCCCAGCCC	-	0.280del²	0.271del²	rs3833051: NA
Exon 7	c.894C>T	A298A	0.002T	0.000T	rs139110184: NA
Exon 9	c.1224G>A	A408A	0.002A	0.000A	rs200161607: 0.001A
Exon 12	c.1888C>G	L630V	0.004G	0.004G	rs2276331: 0.002G
Exon 13	c.2076T>C	A692A	0.377T	0.404T	rs1801552: 0.307T
Exon 14	c.2253C>T	N751N	0.089T	0.102T	rs33964119: 0.058T

¹From http://www.ncbi.nlm.nih.gov/projects/SNP/;

²Coincident with MAF of c.48+6C>T variant. GC: Gastric cancer; MAF: Minor allele count; NA: Not available.

Citation: Chen QH, Deng W, Li XW, Liu XF, Wang JM, Wang LF, Xiao N, He Q, Wang YP, Fan YM. Novel CDH1 germline mutations identified in Chinese gastric cancer patients. World J Gastroenterol 2013; 19(6): 909-916
URL: https://www.wjgnet.com/1007-9327/full/v19/i6/909.htm
DOI: https://dx.doi.org/10.3748/wjg.v19.i6.909