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. 2022 Jan 5;11:789659. doi: 10.3389/fonc.2021.789659

Figure 2.

Figure 2

Pathogenic variants associated with Hereditary Colorectal Cancer syndromes. (A) Percentage of participants positive for at least one pathogenic variant in the genes associated with Hereditary Colorectal Cancer Syndromes (HCCS): Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM), familial adenomatous polyposis (FAP) (APC), MUTYH-associated adenomatous polypopsis (MAP) (MUTYH). The percentage of carriers by gender and number of variants was also illustrated. (B) Pie chart showing the distribution of pathogenic variants among the HCCS-associated genes. No variant was found in EPCAM and MSH2. (C) Lollipop plot reporting distribution of all pathogenic variants identified in MSH6. Protein domains shown include PWWP (Pro-Trp-Trp-Pro) and all Mutator S (MutS) domains.