Version May 2024
| Clinical criteria | Genetic screening | Alterations described | |
| Hereditary diffuse gastric cancer | Two or more cases of gastric cancer, one confirmed case of diffuse gastric cancer in someone younger than 50 years Three or more confirmed diffuse gastric cancer cases in first-degree or second-degree relatives, independent of age of onset Diffuse gastric cancer before age 40 years without a family history | Sequencing of CDH1 coding sequences Multiplex ligation-dependent probe amplification (large CDH1 rearrangements) | Mutations throughout the CDH1 gene and deletions mainly implicating flanking untranslated regions |
| Personal or family history of diffuse gastric cancer and lobular breast cancer, one of which must be diagnosed before age 50 years | Sequencing of CTNNA1 coding sequences | One germline truncating mutation in CTNNA1 | |
| Gastric adenocarcinoma and proximal polyposis of the stomach | Gastric polyps restricted to the body and fundus with no evidence of colorectal or duodenal polyposis More than 100 polyps carpeting the proximal stomach in the index case or more than 30 polyps in a first-degree relative of another case Mainly fundic gastric polyps, some with regions of dysplasia (or a family member with either dysplastic fundic gastric polyps or gastric adenocarcinoma) Autosomal dominant pattern of inheritance Exclusions include other heritable gastric polyposis syndromes and use of proton pump inhibitors* | No screening available | No inherited mutations so far |
| Familial intestinal gastric cancer | Two or more cases of gastric cancer in first-degree or second-degree relatives, with at least one confirmed case of intestinal histology in someone younger than 50 years Three or more confirmed cases of intestinal gastric cancer in first-degree or second-degree relatives, independent of age | No screening available | No inherited mutations so far |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
