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Article

First Report of BAP1-Associated Polyposis.

American journal of medical genetics. Part A - 1 Dec 2025

Jacobson Angela L, Roberts Maegan E, Byrne Lindsey, Wolfe Jenna, Stanich Peter P, Abdel-Rahman Mohamed H, Pritchard Colin C, Konnick Eric Q

Abstract excerpt

BAP1 Tumor Predisposition Syndrome (BAP1-TPDS) is caused by germline pathogenic variants in the BAP1 gene and has been associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and other benign cutaneous lesions. Adenomatous colon polyposis has not previously been reported as part of BAP1-TPDS. We report two patients with unexplained adenomatous oligopolyposis and germline BAP1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40637005
DOI: 10.1002/ajmg.a.64176
PMCID: PMC12851413

Genes

BAP1
APC
CTNNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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