Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome

Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome

Abstract Background Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45–60% of JPS cases, with...

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Bibliographic Details
Main Authors: M. E. Papadopulos, J. P. Plazzer, F. A. Macrae
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
BMPR1a
Juvenile Polyposis Syndrome
Juvenile polyps
GI malignancy
Online Access:https://doi.org/10.1186/s13053-023-00255-3

Internet

https://doi.org/10.1186/s13053-023-00255-3

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