Evidence map›Paper›PMID 36719602›Full record

ArticleDiscover oncology2023

Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports.

Futoshi Muranaka, Emiko Kise, Shigeo Tokumaru, Masato Kitazawa, Yusuke Miyagawa, Tomoaki Suga, Takeshi Uehara, Mai Iwaya, Shota Kobayashi, Midori Sato and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Discover oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 34% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 4 institutions in 1 country.

Futoshi MuranakaDepartment of Surgery, Division of Gastroenterological, Transplantation and Pediatric Surgery, Hepato-Biliary-Pancreatic, Shinshu University School of Medicine, Matsumoto, Japan.
Emiko KiseCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Shigeo TokumaruDepartment of Surgery, Division of Gastroenterological, Transplantation and Pediatric Surgery, Hepato-Biliary-Pancreatic, Shinshu University School of Medicine, Matsumoto, Japan.
Masato KitazawaDepartment of Surgery, Division of Gastroenterological, Transplantation and Pediatric Surgery, Hepato-Biliary-Pancreatic, Shinshu University School of Medicine, Matsumoto, Japan.
Yusuke MiyagawaDepartment of Surgery, Division of Gastroenterological, Transplantation and Pediatric Surgery, Hepato-Biliary-Pancreatic, Shinshu University School of Medicine, Matsumoto, Japan.
Tomoaki SugaEndoscopic Examination Center, Shinshu University Hospital, Matsumoto, Japan.
Takeshi UeharaDepartment of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Mai IwayaDepartment of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Shota KobayashiDepartment of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Midori SatoDepartment of Pathology, Kurashiki Central Hospital, Kurashiki City, Japan.
Daisuke GomiDepartment of Hematology and Medical Oncology, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621, Japan.
Hidetaka YamadaThe First Department of Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Haruhiko SugimuraThe First Department of Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Tomoki KoshoCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Yuji SoejimaDepartment of Surgery, Division of Gastroenterological, Transplantation and Pediatric Surgery, Hepato-Biliary-Pancreatic, Shinshu University School of Medicine, Matsumoto, Japan.
Tomonobu KoizumiDepartment of Hematology and Medical Oncology, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621, Japan. tomonobu@shinshu-u.ac.jp.
Shinshu University · JPShinshu University Hospital · JPHamamatsu University School of Medicine · JPKurashiki Central Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGermline pathogenic variants in the E-cadherin gene CDH1 cause hereditary diffuse gastric cancer (HDGC), which is an autosomal dominant cancer syndrome, accounting for 1-3% of all gastric cancers. HDGC harboring a CDH 1 variant is extremely rare in Japan.

methodIn this study we report the clinical courses of three cases with HDGC from a single Japanese family.

resultsThe proband exhibited advanced and metastatic gastric cancer, and was found to have a previously reported heterozygous frameshift variant in CDH1 (NM_004360.3:c.1009_1010del:p.Ser337Phefs*12). Five at-risk relatives underwent presymptomatic molecular testing after careful genetic counseling, and three were molecularly diagnosed as positive for the variant. Esophagogastroduodenoscopy was performed in these relatives revealing abnormal small pale mucosal patches, small ulcerative lesion and no abnormal findings. Moreover, random and targeted biopsies were compatible with pathological diagnosis of HDGC in the three cases, all of which underwent total prophylactic gastrectomy.

conclusionIt is critical for the assessment and management of HDGC patients to be actively offered a multidisciplinary and familial-oriented approach. Notably, genetic screening in suspected individuals and familial members is a determining piece for a higher detection rate and the identification of clinical relevant mutations in both low and high-incidence gastric cancer countries.

Indexed as

CDH1 mutationsE-cadherinEsophagogastroduodenoscopyHereditary Diffuse Gastric CancerRandom and target biopsiesSignet ring cell carcinomaTotal prophylactic gastrectomy

Identifiers

PMID36719602
PMCPMC9889585
OpenAlexW4318671064

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.