Laboratory Medicine and Quality Assurance

Table. 1. Table 1

Pathogenic variants found in MLH1, MSH2, and MSH6 genes in patients with Lynch syndrome-related cancer

Patient no.	Gene	Nucleotide change	AA change	Variant type
6	MLH1	c.1684del	p.Gln562Argfs*	Frameshift
20	MSH6	c.2731C>T	p.Arg911*	Nonsense
44	MSH2	c.187del	p.Val63*	Nonsense
72	MSH2	c.1867_1870del	p.Ala623fs*	Frameshift
73	MSH2	c.187del	p.Val63*	Nonsense
74	MSH2	Whole gene deletion	-	Deletion
89	MSH2	Exon 8 deletion	-	Deletion
91	MSH2	Exon 1–8 deletion	-	Deletion

Abbreviations: MLH1, mutL homologue 1; MSH2, mutS homologue 2; MSH6, mutS homologue 6; AA, amino acid.