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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

Figure 4

Family tree of ID10 family. This family harbored a truncating mutation at codon 1017 located in a region usually associated with an intermediate FAP phenotype. This mutation displayed an aggressive phenotypic expression: the proband (individual III:1, indicated by an arrow) presented her first polyposis symptoms at the age of 15, a desmoid tumor at age 20, and a thyroid carcinoma at age 21. When available, the ages of onset are presented under each individual. Her brother (III:2) and six first cousins (III:5, 6, 7, 8, 15, and 22) also developed polyps at early ages (14 to 29 years old). The most prematurely affected was a second cousin (individual IV:3), who was diagnosed with polyps at the age of 7. Desmoid tumors were described in another three relatives: two uncles at the age of 40 (II:7 and II:9) and one cousin at 32 years old (III:7).

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