Figure 2.
Summary of DDX41 variants and ethnic difference in germline CV identified in this study and literature. (A) Summary of DDX41 germline (above the protein sequence) and somatic (below the protein sequence) variants. The colors in the boxes above and the horizontal bars below the protein sequence are designated corresponding to the protein functional domains. Numbers in parentheses alone or before a slash indicate the total times of a certain variant was reported in literature including those reported in this study, whereas numbers after a slash represent variants seen in the current study. Red, CV; blue, VUS; orange, likely CV for lymphoma. (B-E) Ethnic difference in DDX41 CV as data combined in this study and collected and reanalyzed in literature.28,29 (B) Germline variants of p.M1I (98%, 39 White and 1 Asian patients) and p.D140fs (95%, 23 White and 1 African American patients) are the leading CVs in White patients. (C) Missense germline variants, although uncommon in Whites (15%), are seen in 49% of Asian patients with HM (P < .0001). (D) p.Y592C (92%, 11 Asians and 1 non-Asian) and p.A500fs (100%, 10 all in Asian) appear the most common germline CV in Asian patients. (E) Somatic DDX41 variants alone, in the absence of associated germline variants, appear more frequently in Asian than White patients (36% in Asian vs 15% in White, P = .0007). ***, P < .001; ****, P < .0001.

Summary of DDX41 variants and ethnic difference in germline CV identified in this study and literature. (A) Summary of DDX41 germline (above the protein sequence) and somatic (below the protein sequence) variants. The colors in the boxes above and the horizontal bars below the protein sequence are designated corresponding to the protein functional domains. Numbers in parentheses alone or before a slash indicate the total times of a certain variant was reported in literature including those reported in this study, whereas numbers after a slash represent variants seen in the current study. Red, CV; blue, VUS; orange, likely CV for lymphoma. (B-E) Ethnic difference in DDX41 CV as data combined in this study and collected and reanalyzed in literature.28,29 (B) Germline variants of p.M1I (98%, 39 White and 1 Asian patients) and p.D140fs (95%, 23 White and 1 African American patients) are the leading CVs in White patients. (C) Missense germline variants, although uncommon in Whites (15%), are seen in 49% of Asian patients with HM (P < .0001). (D) p.Y592C (92%, 11 Asians and 1 non-Asian) and p.A500fs (100%, 10 all in Asian) appear the most common germline CV in Asian patients. (E) Somatic DDX41 variants alone, in the absence of associated germline variants, appear more frequently in Asian than White patients (36% in Asian vs 15% in White, P = .0007). ***, P < .001; ****, P < .0001.

Close Modal

or Create an Account

Close Modal
Close Modal