Keywords
Colorectal neoplasms
Genetic predisposition to disease
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Abstract
Objective: To describe and discuss a case report of a family with mutations in the MUTYH gene, addressing risks, screening, and phenotypic differentiation of heterozygotes and homozygotes. Case details: Observational, cross-sectional, descriptive case report, covering 5 adults from family with MUTYH gene mutation, performed through a semi-structured clinical interview and analysis of complementary exams. The index patient (II/2) and her sister (II/3) presented the p.G382D mutation in homozygosis; the brother (II/1) presented homozygosis. Patient II/2 underwent 12 colonoscopies in 10 years, with removal of 15 polyps. Sister II/3 in 12 years, 22 colonoscopies, 57 polyps, and developed basal cell carcinoma. Brother II/1 had a polypoid tubular adenocarcinoma diagnosed after 4 colonoscopies, in 16 years. The father (I/1), without genetic testing, developed adenocarcinoma and melanoma at an advanced age. The mother (I/2), without genetic testing, was diagnosed with glioma at age 64; papillary thyroid cancer and two basal cell carcinomas at age 56; between ages 62 and 63, two low-grade tubular adenomas were removed from the rectum and cecum; and, after age 60, 24 polyps from the fundic glands were removed. Final considerations: The aim is to raise awareness about the syndrome and its risks, promoting adequate planning, surveillance, and early detection.
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