Fig 1.
(A) Pedigrees of three Danish families harboring germline TP53 mutations. (B) NM_000546 isoform of the TP53 gene protein product showing the mutations found in this study (upper track) and all published mutations from the IARC database (lower track). In the upper track, 5 novel germline mutations described in this study are expanded. In the lower track, mutations from 9 loci in the IARC database are expanded, corresponding to the 9 non-novel mutation sites described in this study. 14 IARC mutations were left out as they were either complex (13) or not classified (1). Variant colors: blue, missense, orange, nonsense, purple, splice region, red, frameshift, green, silent, grey, protein deletion.
Table 1.
IARC database characteristics of germline TP53 mutations observed in both IARC and in this study (families with more than 10 confirmed carriers in the IARC database are in bold).
Table 2.
Clinical and mutational data of families with 36 confirmed or obligate germline TP53 mutations carriers.