Hereditary diffuse gastric cancer associated with a novel germline variant c.1596G>A in the <i>CDH1</i> gene-Reference-Cited by-同舟云学术

Hereditary diffuse gastric cancer associated with a novel germline variant c.1596G>A in the <i>CDH1</i> gene

Published:2023-03-31 Issue:1 Volume:10 Page:87-93
ISSN:2413-3787
Container-title:Advances in Molecular Oncology
language:
Short-container-title:Usp. mol. onkol

Author:

Danishevich A. M.¹^ORCID,Lisitsa T. S.²^ORCID,Nikolaev S. E.¹^ORCID,Abramov I. S.³^ORCID,Filippova M. G.²,Pospekhova N. I.²^ORCID,Stroganova A. M.²^ORCID,Nikulin M. P.²^ORCID,Kalinin A. E.²^ORCID,Stilidi I. S.²^ORCID,Lyubchenko L. N.⁴^ORCID

Affiliation:

1. A.S. Loginov Moscow Clinical Scientific Center, Moscow Healthcare Department

2. N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia

3. Centre for Strategic Planning and Management of Biomedical Health Risks, Federal Medical Biological Agency

4. National Medical Research Center for Radiology, Ministry of Health of Russia; 5 N.A. Lopatkin Research Center for Urology and Interventional Radiology – branch of the National Medical Research Center for Radiology, Ministry of Health of Russia

Abstract

Gastric cancer is one of the most common malignancies worldwide. Approximately 10 % of patients with gastric cancer are characterized by accumulation of gastric cancer cases in their family. The hereditary forms of gastric cancer account for 1–3 % of all gastric cancer cases. Hereditary diffuse GC syndrome is caused by germline mutations in CDH1 gene and determines a high risk of developing diffuse GC and lobular breast cancer. In this article, we present a clinical case of a 41-year-old patient with diffuse gastric cancer, who was found to be a carrier of novel germline mutation in the CDH1 gene. Next-generation sequencing (NGS) has facilitated an identification of CDH1 c.1596G>A genetic variant, thus enabling an accurate clinical diagnosis hereditary diffuse gastric cancer.

Publisher

Publishing House ABV Press

Subject

Cancer Research,Biochemistry (medical),Genetics (clinical),Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

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