Laboratory Medicine and Quality Assurance

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.

Lab Med Qual Assur 2023;45:70~75
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