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Related Experiment Video

Updated: Sep 16, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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First Report of BAP1-Associated Polyposis.

Angela L Jacobson1, Maegan E Roberts2, Lindsey Byrne2

  • 1Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.

American Journal of Medical Genetics. Part A
|July 10, 2025
PubMed
Summary
This summary is machine-generated.

Adenomatous colon polyposis is now recognized as part of BAP1 Tumor Predisposition Syndrome (BAP1-TPDS). Germline BAP1 variants lead to polyps through second BAP1 allele inactivation, expanding the BAP1-TPDS tumor spectrum.

Keywords:
BAP1BAP1‐TPDSadenomasadenomatous polyposisgermlinepolyps

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Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • BAP1 Tumor Predisposition Syndrome (BAP1-TPDS) is linked to germline pathogenic variants in the BAP1 gene.
  • Associated cancers include uveal melanoma, mesothelioma, cutaneous melanoma, and renal cell carcinoma.
  • Adenomatous colon polyposis has not been previously reported in BAP1-TPDS.

Observation:

  • Two patients presented with unexplained adenomatous oligopolyposis and germline BAP1 pathogenic variants.
  • Somatic mutational analysis was performed on polyps from these patients.
  • Evidence of second BAP1 allele inactivation, including somatic mutations, was found in all tested polyps.

Findings:

  • Second somatic BAP1 mutations were identified in every polyp analyzed.
  • No mutations were detected in common adenomatous polyposis pathway drivers (APC, CTNNB1, WNT/β-catenin).
  • Somatic BAP1 mutations were specific to polyps from BAP1 germline carriers, unlike 151 patients without germline BAP1 variants.

Implications:

  • These findings strongly implicate BAP1 as the cause of polyps in these patients.
  • Adenomatous oligopolyposis is now considered a BAP1-TPDS tumor spectrum phenotype.
  • Further research is required to determine the penetrance of this newly identified BAP1-associated condition.