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. 2020 Dec 1;9:e61235. doi: 10.7554/eLife.61235

Figure 1. Germline mutations in TINF2 identified in individuals with multiple malignancies.

(A) TINF2 mutations and clinical features of affected individuals in four different families. Telomere length percentile is based on Flow-FISH data (see below Figure 5—figure supplement 1A). (B, C) Pedigrees of one of the c.604G > C families (B) and the c.557del family (C) listed in (A). Probands are highlighted by arrows. Filled symbols indicate patients with confirmed TINF2 mutations and their clinical features are indicated. Symbols with vertical lines denote individuals who have developed cancer but have not been tested for TINF2 mutations. +: TINF2 mutation; -: wild type for TINF2; ?: not tested. See also Figure 1—figure supplement 1.

Figure 1.

Figure 1—figure supplement 1. Pedigrees of two c.604G > C TINF2 families.

Figure 1—figure supplement 1.

Pedigrees of two families with heterozygous c.604G > C mutations listed in Figure 1A. Probands are highlighted by arrows. Filled symbols indicate patients with confirmed TINF2 mutations and clinical features are indicated. Symbols with vertical lines stand for individuals who have developed cancer but were not tested for the presence of the TINF2 mutations.
Figure 1—figure supplement 2. Somatic mutations in the COSMIC cancer gene census identified in malignancies in TINF2 mutation carriers.

Figure 1—figure supplement 2.

Table showing the somatic mutations identified in the tumors of families with TINF2 mutations.