ArticleHuman mutation2026
Identification of a Germline
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed.
- Identification of a GermlineHuman mutation · 2026Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Gastrointestinal (GI) cancers can be attributed to the interplay between genetic and environmental factors. To date, apart from certain cancer syndromes, the genetic factors underlying familial GI cancers have not been clearly elucidated. Methods: Blood samples were collected from six members of a family with GI cancer for whole exome sequencing to identify suspicious germline mutations. Subsequently, 148 patients with GI cancers (including esophageal and gastric cancers) and 283 cancer-free patients were recruited. The frequency of the suspected mutations in both groups was determined using Sanger sequencing. Furthermore, immunofluorescence (IF) assays for XAF1 protein expression were performed in paraffin-embedded surgically resected tumor tissues from patients with GI cancer, with or without the mutation. Results: In a family with GI cancer, we identified a mutation of Conclusion: Our study provides evidence that a
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