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rdmorin edited this page Jan 11, 2025 · 30 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @paneaWholeGenomeLandscape2019, @reddyGeneticFunctionalDrivers2017, @zhangGeneticHeterogeneityDiffuse2013,

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Overview

Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.

Relevance tier by entity

include:tables/table1_PIK3R1.md

Warnings

<<Warn("The variants reported in this gene in BL failed QC")>>

See below or the study page for more information

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 3.00
BL Thomas cohort 2.50
BL Panea cohort 4.00
DLBCL GAMBL genomes 1.91
DLBCL Schmitz cohort 2.13
DLBCL Reddy cohort 2.00
DLBCL Chapuy cohort 4.70

Mutation pattern and selective pressure estimates

include:tables/dnds_PIK3R1.md

include:tables/browser_PIK3R1.md

Expression

Representative Mutations

DLBCL[@zhangGeneticHeterogeneityDiffuse2013]

Rating ★ ★ ★ ☆ ☆

BL[@paneaWholeGenomeLandscape2019]

Rating ★ ☆ ☆ ☆ ☆

Rating ★ ☆ ☆ ☆ ☆

include:tables/mermaid_PIK3R1.md

References

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