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Table 2 Detailed data of the six patients with LOE of MMR proteins

From: Single-center study of Lynch syndrome screening in colorectal polyps

Nr

Sex

Age(years)

Site

Size

Pathology

Pattern of MMR protein loss

Mutation

Amino acid change

Clinical significance of mutation

Family history of cancer

1.

F

45

rectum

1 .2cm

tubulovillous adenoma with high-grade dysplasia

MSH2MSH6

MSH6 deletion of exon7

unknown

possibly pathogenicity

No tumors in first- or second-degree

2.

F

65

sigmoid colon

0.6 cm

tubular adenoma with low-grade dysplasia

MSH2

negative

NA

NA

No tumors in first- or second-degree

3.

M

58

transverse colon

3 cm

tubular adenoma with high –grade dysplasia

MLH1PMS2

Not detected

NA

NA

unknown

4.

M

48

rectum

1 .5cm

tubular adenoma,malignant

MSH2

c.181C > T (NM_000251.2)

p.Gln61Ter

pathological

No tumors in first- or second-degree

5.

M

48

transverse colon

0 .8cm

tubular adenoma with low -grade dysplasia

MSH2MSH6

MSH2c.842C > G (NM_000251.2)

p.Ser281Ter

pathological

Father died of colon cancer at the age of 58;two uncles with colon cancer

6.

M

39

ascending colon

3 .5cm

tubular adenoma with low–grade dysplasia

MSH2

c.1168C > T (NM_000251.2)

p.Leu390Phe

benign variant

Four uncles with colorectal cancer