PMC8767154_01
A cancer family pedigree with multiple affected members indicating hereditary cancer syndrome. The proband III.2 was diagnosed with gastric cancer at the age of 31 years old. Genetic testing revealed 2 pathogenic variants in the CDH1 and MUTYH genes. Other family members and relatives were labeled for the presence of cancer and mutation status.
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f4
He described a strong family history of cancer, including his father who died of gastric cancer at 48, a paternal aunt who died of gastric cancer at 37 and a paternal first cousin who also died of gatric cancer at 30 ( Figure 4 ). His sister III.1 and the first cousin's son IV.2 were found positive for the mutation NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) while his brother III.4 carried the same 2 pathogenic mutations above ( Figure 4 ).