Table 3.

Identified mutations and variants of uncertain significance and patient characteristics.

Patient #	Cohort	Age	Histology	Stage	Grade	Met Amsterdam II Criteria – Pre-GC	Met Amsterdam II Criteria – Post-GC	Personal History of Cancer	Family History of LS-associated Cancer	IHC Results	Genetic Testing Results - Mutations	Genetic Testing Results - VUS
1	Pre EM-USP	45	Endometrioid	IA	1	No	No	None	No	Loss of MSH2/MSH6	Mutation in MSH2 – del exons 1–6
2	Pre EM-USP	52	Endometrioid	IB	3	No	Yes	Breast age 46	Yes	Loss of MLH1/PMS2	Mutation in MLH1 – c.588+1_+2delGTinsTA
3	Pre EM-USP	73	UPSC	IVB	3	No	No	None	Yes	N/A	Mutation in PMS2 – p.S461
4	Pre EM-USP	56	Endometrioid	IA	1	No	Yes	None	Yes	Loss of MLH1/PMS2	Mutation in MLH1 – 1989del9
5	Pre EM-USP	60	Endometrioid	IA	1	Yes	Yes	Colon age 40	Yes	Loss of MSH2/MSH6	Mutation in MSH2 – 5′UTR_EX6del
6	Pre EM-USP	50	Endometrioid	IA	1	No	No	Colon age 39	Yes	Normal		VUS in MSH6 – A20V (59C>T)
7	Pre EM-USP	61	Endometrioid	IB	1	No	No	None	Yes	Loss of MSH6		VUS in MSH6 – p.L585P
8	EM-USP	46	Endometrioid	II	1	No	Yes	None	Yes	Loss of MSH2/MSH6	Mutation in MSH2 – del exons 1–6
9	EM-USP	61	Carcinosarcoma	IVB	3	No	No	Ovarian age 61, Breast age 60	Yes	Loss of MSH2	Mutation in MSH6 – c.1135_1139delAGAGA
10	EM-USP	35	Endometrioid	IA	2	No	No	None	Yes	Loss of MLH1/PMS2, MLH1 methylation absent	Mutation in MLH1 – G67E (200G>A)
11	EM-USP	54	Mixed clear cell/ endometrioid	IIIC	1	Yes	Yes	Colon age 32	Yes	Loss of MSH2/MSH6	Mutation in MSH2 – c.1982_1985delAACA (p.K661RfsX23) (Lys661ArgfsX23)
12	EM-USP	76	Endometrioid with focal clear cell	IA	1	No	No	None	Yes	Normal		VUS in MLH1 – c.1709A>G (p.Asn570Ser)
13	EM-USP	75	UPSC	IA	3	No	No	None	Yes	Loss of MSH6		VUS in MSH6 – p.P199L

UPSC, Uterine Papillary Serous Carcinoma; GC, Genetic Counseling; IHC, Immunohistochemistry; VUS, Variant of Uncertain Significance.