SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome

Abstract excerpt

BACKGROUND: Juvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime cancer risk by 9 - 50%. Around 40-60% of JPS cases are caused by disease-causing variants (DCV) in SMAD4 or BMPR1A genes, of which SMAD4 accounts for 20-30%. OBJECTIVES: To characterise genotype-phenotype correlations between sites and types of variants within SMAD4 to JPS...

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