A short guide to hereditary diffuse gastric cancer

Guilford, Parry; Blair, Vanessa; More, Helen; Humar, Bostjan

doi:10.1186/1897-4287-5-4-183

Hereditary Cancer in Clinical Practice

Table 1 Identified CDH1 germline mutations

From: A short guide to hereditary diffuse gastric cancer

	Cancer type^a	Other cases with gastric cancers	Other cases with DGC	Age at diagnosis	Unconfirmed breast cancer	Confirmed LBC	Non-gastric cancers^b	CDH1 mutation	Position^c	Type^d	Reference
1								3G>C	ex1	non	[2]
2								41delT	ex1	del	[3]
3	DGC	4	2	30s, 40s, 59, 60s, 67, 70s	1	1	3 Co	45insT	ex1	ins	[4]
4	DGC	3		54, 55, 68	1		Co, Pr, Bl, Pn	49-2A>C	in2	ss	[5]
5	DGC	5		30, 34, 40, 53, 58, 69			Lu, Co	49-2A>G	in1	ss	[6]
6	DGC	1	1	28			Lu, Cx	53delC	ex2	del	[7]
7	DGC	2		27, 50				59G>A	ex2	non	[6]
8	DGC	4	4	37, 38, 39, 40, 45, 46, 66	3		Leu	70G>T	ex2	non	[8]
9	DGC	6	1	46, 46, 62, 69, 72, 72			Ut	185G>T	ex3	mis	[9]
10	DGC	2	1	66, 69, 70s			2 Pr	187C>T	ex3	non	[10]
11	DGC	1	1	28				190C>T	ex3	non	[8, 11]
12	DGC	1		34	2			283C>T	ex3	non	[11]
13	DGC	1		64				353C>G	ex3	mis	[5]
14	DGC	3		15, 37, 58	1	1		372delC	ex3	del	[12]
15								377delC	ex3	del	[2]
16	DGC	6		40, 42, 45, 50, 55, 56	2			382delC	ex3	del	[13]
17								515C>G	ex4	mis	[2]
18	DGC	5						531+2T>A	in4	ss	[14]
19								532-18C>T	in4	ss	[2]
20	DGC	3	3	31, 46, 55				586G>T	ex5	non	[8]
21	DGC	3		36, 48, 50	1			687+1G>A	in5	ss	[13]
22	DGC	1	1	29			Co	715G>A	ex6	mis	[5]
23	DGC	6		30, 33, 39, 41, 49, 63				731A>G	ex6	mis	[15]
24	DGC	1		20			3 Co	753insG	ex6	ins	^e
25	HPC	1						808T>G	ex6	mis	[16]
26	DGC	7	3	23, 29, 29, 42, 70s, 70s	1			832G>A	ex6	ss	[4]
27	DGC	2	1	32, 33	0			892G>A	ex7	mis	[13]
28	HGC	3		22, 44, 45, 51, 73	2		Ly, Pr	1003C>T	ex7	non	[17]
29	DGC	28	9	14–74	1	bilateral	Co	1008G>T	ex7	ss	[1]
30	DGC	1	1	30s, 35			non-gastric	1018A>G	ex8	mis	[4]
31								1062delG	ex8	del	[2]
32	DGC	2	1	50, 58	0			1064insT	ex8	ins	[13]
33	DGC	1	1	27, 64			Co	1107delC	ex8	non	[5]
34	DGC	2					Co, DuBr	1118C>T	ex8	mis	[18]
35	DGC	3	2	30, 32, ?	0			1134del8ins5	ex8	del+ins	[13]
36	DGC	2		18, 37			many	1137G>A	ex8	ss	[2, 5, 14]
37	DGC	3	3	25, 41, 44				1137+1G>A	in8	ss	[8]
38	DGC	4	3	17, 32, 46, 47	4			1212delC	ex9	del	[13]
39	DGC	1	1	51			Co(SRC)	1226T>C	ex9	mis	[13]
40	DGC	5	2	63				1243A>C	ex9	mis	[19]
41								1285C>T	ex9	mis	[2]
42	DGC	1	1	61, 78	1			1391–1392delTC	ex10	del	[5]
43	DGC	1	1	40	0			1476delAG	ex10	del	[13]
44	DGC, LBC							ND	ex10	non	[20]
45	DGC	1		49				1460T>C	ex10	mis	[15]
46	DGC	2	1	30s, 40s				1472_1473insA	ex10	ins	[4]
47	DGC			60			Co	1488–1494del CGAGGAC	ex10	del	[8]
48								1507C>T	ex10	non	[2]
49	DGC	2	1	56				1565+1G>T	in10	ss	[7]
50	DGC	2	2	48, 59	1			1588insC	ex11	ins	[8]
51	DGC	3		58, 71, 82			Co	1610delC	ex11	del	[21]
52	DGC	1		49, 58, 73	1	bilateral	Lu	1619insG	ex11	ins	[22]
53	DGC	3	1	38–52	1			1682insA	ex11	ins	[2]
54	DGC	1	1	19	1		Pr	1710delT	ex11	del	[7]
55	DGC	6		30, 32, 40, 43, 56, 57				1711insG	ex11	ins	[10]
56	DGC	2	2	44, 44	5	1		1711+5G>A	in11	ss	[13]
57	HPC	2		46, 53, 61, 68, 75, 76, 79, 70, 81, 85	1	3 Pr, Co, Ut	1774G>A	ex12	mis	17
58	DGC	2	1	35, 42	0			1779insC	ex12	ins	[13]
59	DGC	4		27, 28, 39, 43				1792C>T	ex12	non	[10]
60								1795A>T	ex12	mis	[2]
61								1849G>A	ex12	mis	[23, 24]
62								1876T>A	ex12	mis	[2]
63	DGC							1901C>T	ex12	mis	[2, 5, 24]
64	DGC	10	1	21–59				1913G>A	ex12	non	[2]
65	DGC	1	1	47	0			2061delTG	ex13	del	[13]
66	DGC							2095C>T	ex13	non	[1]
67	LBC							2161C>G	ex13	ss	[2]
68	DGC	3	1	38–44				2164+5G>A	in13	ss	[2]
69	Colon	2	2	36, 70	4	2		2195G>A	ex14	mis	[13]
70	DGC	3	2	36–49				2245C>T	ex14	mis	[2]
71								2276delG	ex14	del	[2]
72	DGC	3	1	44, 44, 52				2295+5G>A	in14	ss	[7]
73	DGC	8		42, 45, 49, 57, 75, 79, 79, ?	1			2310delC	ex15	del	[13]
74	HPC	1		64, 74, 74			2 Pr	2329G>A	ex15	mis	[17]
75	DGC	2	2	51–63	1			2343A>T	ex15	mis	[2]
76	DGC	6	1	16, 34, 35				2381insC	ex15	ins	[1]
77	GC	2		52				2396C>G	ex15	mis	[12]
78	DGC	17	2	25–80	13	3		2398delC	ex15	del	[2]
79	DGC	6		53, 56				2494G>A	ex16	mis	[25]
80	DGC	3	1	37, 43, 45, 60, 71	2		Lu, Ly	2440-1C>T	in15	ss	^e
81	DGC	1	1				Lu	2440-6C>G	in15	ss	[5]

^aDGC – diffuse gastric cancer, LBC – lobular breast cancer, HPC – hereditary prostate cancer
^bBl – bladder, Co – colon, Cx – cervix, DuBr – ductal breast, Leu – leukaemia, Lu – lung, Ly – lymphoma, Pn – pancreas, Pr – prostate, Ut – uterus
^cex – exon, in – intron
^ddel – deletion, ins – insertion, mis – missense, non – nonsense, ss – splice site
^eH.M. unpublished result

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ISSN: 1897-4287

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