Testing strategies to reduce morbidity and mortality from Lynch syndrome

Figures & data

Table 1. Summary of findings in this study.

						Selection criteria
Patient		FH^a	IH^b	Pathogenic variant	Age of onset	AC^c	BG^d	PCC^e
1		0	PMS2-	PMS2; c.2113G > A (p.Glu705Lys)	35	0	1	1
2		0	PMS2-	PMS2; del exons 2-9	46	0	1	1
3		0	MSH2-MSH6-	MSH2; c.1906G > C (p.Ala636Pro)	31	0	1	1
4		1	MLH1-PMS2-	MLH1; del exons 10-11	64	2	2	2
5		1	MSH6-	MSH6 c.3013C > T (p.Arg1005*)	90	0	0	0
6		2	MLH1-PMS2-	MLH1 c.546-2A > G	54	0	4	2
7		2	MSH2-MSH6-	MSH6; c.3195_3199del (p.Asn1065Lysfs*5)	57	0	2	3
8		1	MSH2-MSH6-	MSH2; del exons 1-8	61	1	2	2
9		0	MSH6-PMS2-	PMS2; c.2113G > A (p.Glu705Lys)	71	0	0	0
10		2	MSH6-?	MSH6; c.3647-2A > C	71	0	4	2
11		0	MSH6-	MSH6; c.2779dup (p.Ila927Asnfs*8)	64	0	2	3

^a FH (Family History), 0; no family history, 1; one close relative with CRC, 2; at least two more relatives with CRC.

^b IH, immunohistochemistry loss of protein.

^c AC, revised Amsterdam criteria, 0, the criteria are not met, 1, at least three close relatives with CRC, one of whom is younger than 50 years of age, 2, at least three close relatives with CRC or HNPCC-associated cancer, one of whom is younger than 50 years of age [5,10].

^d BG, revised Bethesda guidelines, 0, the criteria are not met, 1, patient with CRC younger than 50 years of age, 2, presence of synchronous, metachronous CRC or other HNPCC-associated tumor, 4, CRC or HNPCC-associated tumor in at least one close relative younger than 50 years of age [6].

^ePCC, our institution’s prior clinical criteria, the clinical criteria used in previous study, 1, CRC in a patient younger than 50 years of age, 2, CRC in at least one close relative younger than 60 years of age, 3, CRC in at least two close relatives regardless of age [11].

Table 2. Results from immunohistochemistry and mutation screening.

Protein	MLH1-/PMS2-	MSH2-/MSH6-	PMS2-	MSH6-
IH-loss	58	3	6	7
Mutations	2	3	3	3
IH-loss, age <70	25	3	4	2
Mutations	2	3	2	1

Table 3. Distribution of included number of patients and the number of detected pathogenic variants of totally 11 in each group respectively.

Group of patients^a	Patients	Patogenic variants
< 40 years	8	2
< 50 years	30	3
< 60 years	115	5
< 70 years	280	8
< 80 years	450	10
< 90 years	563	0
< 100 years	572	11
Amsterdam criteria	5	2
Bethesda guidelines	14	9
Prior clinical criteria	130	9

^aResults grouped according to age and clinical criteria.

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