Familial breast cancer

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Clinically tested in patients with suggestive phenotypes. High risk of breast cancer and important management implications.
Created: 29 Jan 2016, 5:06 p.m.
Comment on list classification: Germline PTEN mutations are associated with an 85% lifetime risk of breast cancer.
Created: 29 Jan 2016, 5:04 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for PTEN were set to PMID: 22252256

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PTEN was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory