Hereditary diffuse gastric cancer: What the clinician should know

Table 2 Summary of non-CDH1 germline mutations in hereditary diffuse gastric cancer

Gene	Mutation	Location	Mutation type	Ethnicity	Ref.	Study type	Frequency	Remarks
CTNNA1	c.76delGA	Chr 5: 138117693	Nonsense	No data	[13]	Family study	1/1 family	Results in a framshift after Arg27 (p.Arg27Thr.fs*17)
MAP3K6	c.598G>T	Chr 1: 27690792	Missense	Canada	[14]	Family study and case series	1/1 family 1/115 cases	Likely pathogenic
MAP3K6	c.620T>G	Chr 1: 27690770	Missense	No data	[14]		No data
MAP3K6	c.2837C>T	Chr 1: 27684750	Silent	No data	[14]		No data	Single nucleotide variant also in Canadian family, likely pathogenic
MAP3K6	c.2872C>A	Chr 1: 27684715	Missense	No data	[14]		No data
MAP3K6	c.2544delC	Chr 1: 27685238 - 27685239	Nonsense	Portugese	[14]		1/115 cases
INSR	c.3937 G>A	Chr 19: 7117279	Missense	Finland	[15]	Family study	1/1 family
FBXO24	c.242G>C	Chr 7: 100187900	Missense	Finland	[15]		1/1 family
DOT1L	c.3437C>T	Chr 19: 2223326	Missense	Finland	[15]		1/1 family