Table 2.

Characteristics of patients with hereditary cancer (germline genetic mutation identified).

P.	G.	Age 1	Gender	Referral Criteria	Personal History of Other Cancer	Family History of Cancer *	IHC-MMR	GeneticsTechnique	Gene Affected (Pathogenic Variant)	Hereditary Syndrome
1	GC	75	Female	GC+ other	Endometrium	No	MSH2/MSH6	Single-gene testing	MSH2 (c.602dupT p.Leu201Phe*31)	Lynch S
2	GC	55	Female	Family history	Breast	No	Undone	Multigen panel	ATM (c.4507C>T (p.Gln1503Ter))	ATM
3	GC	35	Female	Family history	Endometrium	Yes (pancreas and breast)	Undone	Multigen panel	ATM (c.2921+1G>A. 19 intron)	ATM
4	GC	41	Male	GC ≤ 60 years	No	No	Undone	Multigen panel	CDH1 (c.220C>T (p.Arg74 *))	HDGC
5	GC	38	Male	GC ≤ 60 years	No	No	Undone	Multigen panel	CDH1 c.2164+5G>C)	HDGC
6	GC	49	Female	GC ≤ 60 years	Breast	Yes (breast)	MMR+	Single-gene testing	BRCA2 (c.3166 C>T))	HBOC
7	GC	34	Male	GC ≤ 60 years	No	Yes (breast and colon)	MMR+	Multigen panel	TP53 (c.365_366delTG (p.Val122AspfsTer26))	Li-Fraumeni S
8	PC	45	Female	Family history	No	Yes (Breast, stomach)	Undone	Directed	BRCA2 c.3264dupT (p. (Gln1089Serfs*10),	HBOC
9	PC	33	Male	PC ≤ 60 years	No	Yes (breast)	Undone	Multigen panel	ATM (c.6711_6715delGGAAA (p.Lys2237Asnfs*10)	ATM
10	PC	33	Male	PC ≤ 60 years	No	Yes (breast)	Undone	Multigene panel	PALB2 (c.3483delT; p. (Phe1161Leufs*2))	HBOC

* Only hereditary syndrome-associated tumors are mentioned. P., patient; G., group; IHC-MMR, Immunohistochemical analysis of DNA repair proteins; GC, gastric cancer; PC, pancreatic cancer; MMR+, normal protein expression of DNA repair proteins; HC, hereditary cancer; HBOC, hereditary breast-ovarian cancer syndrome; S., Syndrome. ¹ If no personal history of GC or PC, the age corresponds to the youngest relative.