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
5 reviews
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
- Tags
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset leukodystrophy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- COVID-19 research
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
History Filter Activity
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