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PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.

Annual review of genomics and human genetics - 1 Aug 2024

Morin Gabriel M, Zerbib Lola, Kaltenbach Sophie, Fraissenon Antoine, Balducci Estelle, Asnafi Vahid, Canaud Guillaume

Abstract excerpt

Recent advances in genetic sequencing are transforming our approach to rare-disease care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also detected in malformation mosaic diseases categorized as PIK3CA-related disorders (PRDs). Over the past decade, new approaches have enabled researchers to elucidate the pathophysiology of PRDs and uncover novel therapeutic options. In just...

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PMID: 38316164
DOI: 10.1146/annurev-genom-121222-114518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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