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Article

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

American journal of medical genetics. Part A - 1 Oct 2016

Gripp Karen W, Baker Laura, Kandula Vinay, Conard Katrina, Scavina Mena, Napoli Joseph A, Griffin Gregory C, Thacker Mihir, Knox Rachel G, Clark Graeme R, Parker Victoria E R, Semple Robert, Mirzaa Ghayda, Keppler-Noreuil Kim M

Abstract excerpt

Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be the result of genomic abnormalities seen in Beckwith-Wiedemann syndrome, mosaic chromosome or genomic abnormalities, or somatic point mutations. Somatic missense mutations affecting the PI3K-AKT-MTOR pathway result in segmental overgrowth and are present...

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Share to Amino Acid Substitution
Share to Class I Phosphatidylinositol 3-Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heterozygote

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Source

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Identifiers

PMID: 27191687
DOI: 10.1002/ajmg.a.37758
PMCID: PMC5514817

Genes

MTOR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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