ArticleMolecular genetics & genomic medicine2016
Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Hereditary diffuse gastric cancer: updated clinical practice guidelines.The Lancet. Oncology · 2020Guideline
- Review
- Gastrointestinal Cancer Precursor Conditions and Their Detection.Hematology/oncology clinics of North America · 2024Review
- Hereditary Diffuse Gastric Cancer: Molecular Genetics, Biological Mechanisms and Current Therapeutic Approaches.International journal of molecular sciences · 2022Review
- Article
- Article
- Confirmation of risk of cancer in blepharocheilodontic syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.Current oncology (Toronto, Ont.) · 2020Article
- CDH1 on Multigene Panel Testing: Look Before You Leap.Journal of the National Cancer Institute · 2020Article
- Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a GermlineJournal of Cancer · 2020Article
- Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.JAMA oncology · 2019Article
- The role of endoscopy in the management of hereditary diffuse gastric cancer syndrome.World journal of gastroenterology · 2019Review
- Contemporary paradigm for the evaluation and treatment of hereditary gastric cancer.Translational gastroenterology and hepatology · 2019Review
- Patients' Medical and Psychosocial Experiences After Detection of aJCO precision oncology · 2019Article
- Diffuse Gastric Cancer: A Summary of Analogous Contributing Factors for Its Molecular Pathogenicity.International journal of molecular sciences · 2018Review
- Inherited Cancer in the Age of Next-Generation Sequencing.Biological research for nursing · 2018Review
- Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment.Genome medicine · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe reported penetrance of germline CDH1 mutations is high in families with hereditary diffuse gastric cancer (HDGC). Men and women have a 70% and 56%, respectively, cumulative risk of developing diffuse gastric cancer by age 80. Women additionally have a 42% cumulative risk of developing breast cancer. Due to the high penetrance of these mutations, prophylactic total gastrectomy is currently recommended for CDH1 mutation carriers. However, whether everyone with a CDH1 gene mutation is at risk for HDGC is not clear.
methodsMutation identification was performed by next-generation sequencing. Mutations and variant status was confirmed by Sanger sequencing in 11 family members.
resultsWe present two families with pathogenic CDH1 mutations. The first family carries a novel truncating, nonsense CDH1 mutation that we were able to trace for three generations, but reports no family history of diffuse gastric cancer. The occurrence of cancer in this family deviates significantly from the expectation for HDGC. The proband from the second family presents with breast cancer and carries a previously reported pathogenic CDH1 mutation, but also reports no family history of diffuse gastric cancer.
conclusionsOur study demonstrates the need for further analysis of CDH1 mutation penetrance in order to better counsel asymptomatic CDH1 mutation carriers on preventative measures and general care.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.