Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants
Our report expands both the phenotypic and molecular spectrum of <i>POLD1</i>-associated PPAP by documenting the first duodenal adenocarcinomas in germline carriers and describing a novel variant. These findings emphasize the need for systematic upper gastrointestinal surveillance, support the systematic reporting of rare <i>POLD1</i> variants to refine genotype-phenotype correlations, and underline the potential therapeutic relevance of identifying carriers in the context of immunotherapy.
Authors
- Flora Ponelle‐Chachuat (ORCID: https://orcid.org/0000-0002-3637-5504)
- Mathilde Gay‐Bellile (ORCID: https://orcid.org/0000-0002-3059-532X)
- Yannick Bidet (ORCID: https://orcid.org/0000-0002-9624-8195)
- Mathias Cavaillé (ORCID: https://orcid.org/0000-0002-4079-4891)
- Nancy Uhrhammer (ORCID: https://orcid.org/0000-0002-7816-2398)
- Mathis Lepage
- Maud Privat
- Morgane Helyon
- Anais Folletet
Institutions
- Inserm (FR)
- Université Clermont Auvergne (FR)
- University of Clermont Auvergne (FR)
- Centre Jean Perrin (FR)
- Centre Hospitalier Universitaire de Clermont-Ferrand (FR)
- Clermont Université (FR)
- Imagerie Moléculaire et Stratégies Théranostiques
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2025-12-19
- DOI
- https://doi.org/10.3389/fonc.2025.1727289
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00