Skip to main content

Table 2 Number of patients with cancer among probands that carried MITF p.E318K variant and their relatives, compared to the total of relatives mentioned on familial history

From: Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

 

Probands

FDR

Paternal SDR

Maternal SDR

Paternal TDR

Maternal TDR

Cancer history

6 (60 %)

19 (25 %)

10 (8 %)

17 (24 %)

3 (14 %)

5 (8,9 %)

Total

10

74

116

70

21

56

  1. FDR First-degree relatives, SDR second-degree relatives, TDR third-degree relatives