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Article

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

Familial cancer - 1 Apr 2019

Sutcliffe Erin G, Bartenbaker Thompson Amanda, Stettner Amy R, Marshall Megan L, Roberts Maegan E, Susswein Lisa R, Wang Ying, Klein Rachel T, Hruska Kathleen S, Solomon Benjamin D

Abstract excerpt

Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for...

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Identifiers

PMID: 30604180
DOI: 10.1007/s10689-018-00116-2

Genes

MUTYH
FAP

Provenance

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