Table 1

Characteristics of the 11 individuals with a germline MLH1 variant from 12 colorectal carcinomas with loss of PMS2 expression and retained MLH1 expression

Tumour #	Gender	Age, years	Amsterdam criteria	Tumour location	Variant	Protein	InSiGHT classification
1	Female	40	None	Descending	c.230G>A	p.Cys77Tyr	Class 5
2*	Male	44	None	Descending	c.113A>G	p.Asn38Ser	Class 5
3*	Male	40	I	Rectum	c.113A>G	p.Asn38Ser	Class 5
4	Female	51	I	Descending	c.790+1G>A	p.Glu227_Ser295del	Class 5
5†	Male	34	II	Cecum	c.677+3A>G	p.Gln197Argfs*8	Class 5
6†	Male	34	II	Rectum	c.677+3A>G	p.Gln197Argfs*8	Class 5
7	Male	63	I	Caecum	c.2195_2198dup	p.His733Glnfs*14	Class 5
8	Male	49	None	Unknown	c.230G>A	p.Cys77Tyr	Class 5
9	Female	33	None	Rectum	c.199G>A	p.Gly67Arg	Class 5
10	Male	62	II	Transverse	c.374C>A	p.Ala125Glu	UV
11	Male	24	None	Ascending	c.187G>C	p.Asp63His	UV
12	Male	38	I	Cecum	c.187G>C	p.Asp63His	UV

UV: unclassified variant by InSiGHT. These UVs were predicted to be damaging through in silico analysis.
*Cousins.
†2×colorectal carcinomas from the same individual.