ArticleEuropean journal of human genetics : EJHG2021
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- A consolidated working classification of gastric cancer for histopathologists (Review).Biomedical reports · 2023Review
- Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.Cell genomics · 2023Article
- The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Human mutation · 2022Article
- Molecular Landscapes of Gastric Pre-Neoplastic and Pre-Invasive Lesions.International journal of molecular sciences · 2021Review
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.European journal of human genetics : EJHG · 2021Article
- Solving the unsolved rare diseases in Europe.European journal of human genetics : EJHG · 2021Article
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.European journal of human genetics : EJHG · 2021Article
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Authors and funding
12 authors at 9 institutions in 6 countries.
Funding
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Abstract
Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing genes. Under the collaborative environment of the SOLVE-RD consortium, re-analysis of whole-exome sequencing data from unresolved gastric cancer cases (n = 83) identified a mosaic missense variant in PIK3CA in a 25-year-old female with diffuse gastric cancer (DGC) without familial history for cancer. The variant, c.3140A>G p.(His1047Arg), a known cancer-related somatic hotspot, was present at a low variant allele frequency (18%) in leukocyte-derived DNA. Somatic variants in PIK3CA are usually associated with overgrowth, a phenotype that was not observed in this patient. This report highlights mosaicism as a potential, and understudied, mechanism in the etiology of DGC.
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