Breast cancer pertinent cancer susceptibility
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note that there are no clinical guidelines to manage the findings.Created: 11 Mar 2026, 2:07 p.m. | Last Modified: 11 Mar 2026, 2:08 p.m.
Panel Version: 2.17
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Germline PTEN variants confer up to 85% lifetime risk of female breast cancer. Inclusion on this panel should therefore be reviewed by the expert group at the next GMS panel update.Created: 6 May 2025, 2:58 p.m. | Last Modified: 6 May 2025, 2:58 p.m.
Panel Version: 2.13
Dmitrijs Rots (Children's Clinical University Hospital)
Well-known breast cancer risk geneCreated: 25 Apr 2024, 8:25 p.m. | Last Modified: 25 Apr 2024, 8:25 p.m.
Panel Version: 2.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PHTS
Catherine Snow (Genomics England)
Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.Created: 29 Sep 2021, 12:10 p.m. | Last Modified: 29 Sep 2021, 12:10 p.m.
Panel Version: 1.1
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Breast tumour type.Created: 26 Jul 2017, 9:53 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast; Colorectal; Endometrial Carcinoma; Renal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Breast cancer
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Inherited polyposis and early onset colorectal cancer - germline testing
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- COVID-19 research
- Adult onset neurodegenerative disorder
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
History Filter Activity
11 Mar 2026, Gel status: 2
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: PTEN. Tag Q2_25_expert_review was removed from gene: PTEN.
30 Oct 2025, Gel status: 2
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pten has been classified as Amber List (Moderate Evidence).
6 May 2025, Gel status: 1
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pten has been classified as Red List (Low Evidence).
6 May 2025, Gel status: 1
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: PTEN. Tag Q2_25_expert_review tag was added to gene: PTEN.
29 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: pten has been classified as Red List (Low Evidence).
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
26 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTEN was created by ellenmcdonagh
19 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Breast cancerpanel. Sources: Expert list