A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Paske, Iris B A W Te; Garcia-Pelaez, José; Sommer, Anna; Matalonga, Leslie; Starzyńska, Teresa; Jakubowska, Anna; Post, Rachel S. van der; Lubiński, Jan; Oliveíra, Carla; Hoogerbrugge, Nicoline; Voer, Richarda M. de

doi:10.1038/s41431-021-00853-6

Cited by 9 publications

(3 citation statements)

References 20 publications

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“…To this end, 19,000 genome‐phenome datasets are in the process of being collected, processed, and analyzed in the RD‐Connect GPAP. Programmatic reanalysis of the first ~4,000 families resulted in rapid resolution of 120 families (de Boer et al, 2021; Matalonga et al, 2021; Schüle et al, 2021; te Paske et al, 2021; Topf et al, 2021). These numbers, which have increased substantially since publication, were achieved through the identification of causative variants that had either been missed by the original variant filtering strategies undertaken by submitting centers, or were dismissed as being unimportant at the time due to a lack of supporting evidence, but for which further information has come to light linking the gene to the phenotype of the case in the intervening period.…”

Section: Resultsmentioning

confidence: 99%

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

et al. 2022

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Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case.Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome

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Section: Resultsmentioning

confidence: 99%

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

et al. 2022

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“…PIK3CA mutations are associated with GC-EBV(+) and GC-dMMR clusters. The most common mutation is H1047R in Ex20, which has a predilection for the GC-dMMR cluster ( 45 ). Tumour harbouring PIK3KA activating mutation can be targeted by TKIs.…”

Section: Additional Companion Diagnostic Biomarkers Useful In Gcmentioning

confidence: 99%

A consolidated working classification of gastric cancer for histopathologists (Review)

Costache

Sajin

Wedden³

et al. 2023

Biomed Rep

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Gastric cancer (GC) remains a disease with poor prognosis despite increasing availability of more effective targeted treatment. This may be in part due to the difficulty in selecting patients for appropriate treatment. Conventional taxonomic classifications of GC are ill-suited to make full use of recent advances in personalised therapy. In the past decade a number of molecular classifications have been proposed to address this; however, to date, there has been little implementation in the diagnostic routine. The lack of harmonisation between these classifications, the complexity and unavailability of some of the tests required plus the demands on time and resources, all contribute to poor uptake in the diagnostic routine. In the present study, these classifications were reviewed and an inclusive working classification that includes their main points, focuses on prognosis and treatment options and can be delivered using four on-slide tests ( in situ hybridization for Epstein-Barr encoding region and immunohistochemistry for mismatch repair, E-cadherin and p53) is proposed. These tests can be performed on paraffin-embedded tissue and could be available in the majority of histopathology laboratories. The proposed classification also includes reflex testing for specific biomarkers relevant to treatment selection.

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“…The overall implementation currently enables RD-Connect users to remotely access and visualize 11,750 datasets from patients and relatives submitted through the Solve-RD project, which has identified causative variants in hundreds of cases with an RD. 5 , 14 , 15 , 16 , 17 , 18 …”

Section: Designmentioning

confidence: 99%

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

Corvò¹,

Matalonga²,

Spalding³

et al. 2023

Cell Genomics

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A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Cited by 9 publications

References 20 publications

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

A consolidated working classification of gastric cancer for histopathologists (Review)

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

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