5 results match your criteria: "Michigan Medicine Cancer Genetics Clinic[Affiliation]"
High-fat diet plus HNF1A variant promotes polyps by activating β-catenin in early-onset colorectal cancer.
JCI Insight
July 2023
Department of Medicine, Division of Gastroenterology and Hepatology, Arizona Comprehensive Cancer Center, and.
Article Synopsis
- - The study investigates the rising incidence of early-onset colorectal cancer (EO-CRC) and identifies a specific mutation, HNF1AA98V, linked to it, affecting the DNA binding capability of the HNF1A protein.
- - Researchers used CRISPR/Cas9 to introduce the HNF1AA98V mutation into mice, finding that a high-fat diet increased polyp development compared to a normal diet.
- - The findings also showed that this mutation leads to changes in gene expression related to metabolism and Wnt/β-catenin signaling, contributing to polyp formation by decreasing Cdx2 expression.
Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
Am J Gastroenterol
November 2022
Section of Gastroenterology, Hepatology and Nutrition, University of Chicago, Chicago, Illinois, USA.
Introduction: Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.
Methods: This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.
Advances in cancer genetics have increased germline pathogenic/likely pathogenic variant (PV/LPV) detection rates. More data is needed to inform which patients with previously uninformative results could benefit most from retesting, especially beyond breast/ovarian cancer populations. Here, we describe retesting outcomes and predictors of PV/LPVs in a cohort of patients unselected by cancer diagnosis.
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