Hereditary diffuse gastric cancer associated with a novel germline variant c.1596G>A in the <i>CDH1</i> gene
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 s...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , , , |
|---|---|
| Formáid: | Alt |
| Teanga: | Rúisis |
| Foilsithe / Cruthaithe: |
ABV-press
2023-04-01
|
| Sraith: | Успехи молекулярной онкологии |
| Ábhair: | |
| Rochtain ar líne: | https://umo.abvpress.ru/jour/article/view/515 |
| Clibeanna: |
Cuir clib leis
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
|
| Achoimre: | 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. |
|---|---|
| ISSN: | 2313-805X 2413-3787 |