Inherited non-medullary thyroid cancer
Gene: PIK3CA

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Reports of somatic variants
Created: 7 Aug 2017, 12:31 p.m.

Comment on publications: PMID 16288007 reports somatic variants
Created: 7 Aug 2017, 12:26 p.m.

Created: 7 Aug 2017, 12:26 p.m.

Panel version: 0.53

Emma Woodward (Manchester Centre for Genomic Medicine)

Red List (low evidence)

PIK3CA germline mutations have been shown to be associated with Cowden and we know that Cowden can be associated with increased risk of FTC. I am not aware that PIK3CA mutations have specifically been associated with NMTC predisposition.
Created: 13 Jun 2017, 2:48 p.m.

Created: 13 Jun 2017, 2:48 p.m.

Panel version: 0.5

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Very limited evidence. No clinical utility
Created: 9 Jun 2017, 10:02 a.m.

Created: 9 Jun 2017, 10:02 a.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Cowden syndrome 5 615108

OMIM

171834

Clinvar variants

Variants in PIK3CA

Penetrance

Complete

Publications

Panels with this gene