Association of CDH1 Germline Variants and Colon Polyp Phenotypes in Patients with Hereditary Diffuse Gastric Cancer.

Autor:	Passi M; Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health., Gamble LA; Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health., Samaranayake SG; Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health., Schueler SA; Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health., Curtin BF; Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health., Fasaye GA; Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health., Bowden C; Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health., Gurram S; Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health., Quezado M; Laboratory of Pathology, National Cancer Institute, National Institutes of Health., Miettinen M; Laboratory of Pathology, National Cancer Institute, National Institutes of Health., Koh C; Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health., Heller T; Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health., Davis JL; Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health.
Jazyk:	angličtina
Zdroj:	Gastro hep advances [Gastro Hep Adv] 2023; Vol. 2 (2), pp. 244-251. Date of Electronic Publication: 2022 Oct 28.
DOI:	10.1016/j.gastha.2022.10.006
Abstrakt:	Background and Aims: Germline CDH1 variants resulting in E-cadherin loss of function result in an increased risk of diffuse type gastric cancer and lobular type breast cancer. However, the risk of developing other epithelial neoplasms, specifically colorectal cancer, is unknown. Methods: Patients enrolled in a prospective natural history study of hereditary gastric cancer who underwent at least one colonoscopy were evaluated. Results: Out of 300 patients with CDH1 pathogenic or likely pathogenic variants, 85 underwent colonoscopy. More than half of patients (56%, 48/85) had at least one colorectal polyp. Most of those patients (83%, 40/48) had at least one precancerous polyp (adenoma or sessile serrated lesion). More than half (56%) of patients younger than age 45 had a colorectal polyp. Of those with polyps, the most frequent CDH1 variant type was canonical splice site (27%, 13/48) followed by nonsense (21%, 10/48). There was no association between CDH1 variant type and increased likelihood of colorectal polyps. Conclusions: In summary, a majority of CDH1 variant carriers who underwent colonoscopy had colorectal polyps detected, and most subjects were less than 45 years old. This study of colorectal cancer risk based on the prevalence of colorectal polyps in the CDH1 population requires further investigation to appropriately counsel patients on colorectal cancer screening. Clinical trial registry website: https://clinicaltrials.gov/. Clinical trial number: NCT03030404. Competing Interests: Conflicts of Interest The authors disclose no conflicts.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu