Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis
This study identified novel genes potentially associated with polyposis in patients lacking germline pathogenic variants in the <i>APC</i> and <i>MUTYH</i> genes. These findings support the use of next-generation sequencing for screening, expanding the scope of polyposis-related variants beyond these two genes.
Authors
- Fabio Pedraza García
- Natália Campacci (ORCID: https://orcid.org/0000-0001-6063-3254)
- Ariane S. Pereira
- Rui Manuel Reis (ORCID: https://orcid.org/0000-0002-9639-7940)
- Matias Eliseo Melendez (ORCID: https://orcid.org/0000-0002-0643-6185)
- Wellington dos Santos (ORCID: https://orcid.org/0000-0002-0611-2658)
- Thaís Couto Laureano
- Edenir Inêz Palmero (ORCID: https://orcid.org/0000-0003-1904-2158)
- Edilene Santos de Andrade (ORCID: https://orcid.org/0000-0001-7711-8611)
- Monise Tadin Reis (ORCID: https://orcid.org/0009-0001-5708-9881)
- Henrique C.R. Galvão (ORCID: https://orcid.org/0000-0002-8017-6537)
Institutions
- Hospital de Câncer de Barretos (BR)
- University of Minho (PT)
Publication Details
- Journal
- World Journal of Gastroenterology
- Published
- 2025-08-05
- DOI
- https://doi.org/10.3748/wjg.v31.i29.104830
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.47