Inherited ovarian cancer (without breast cancer)
Gene: PMS2
PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)Created: 3 Mar 2021, 12:33 p.m. | Last Modified: 3 Mar 2021, 12:33 p.m.
Panel Version: 2.20
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 31 Jul 2019, 12:24 p.m. | Last Modified: 31 Jul 2019, 12:24 p.m.
Panel Version: 1.9
Lara Hawkes (Genomics England)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is reported as part of pertinent germline findings for the Cancer Programme for patients with ovarian cancer.Created: 30 May 2017, 11:37 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert List
- Expert Review Amber
- Emory Genetics Laboratory
- Phenotypes
-
- Ovarian cancer, MONDO:0008170
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- Complete
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Brain cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
3 Mar 2021, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PMS2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
29 Jan 2019, Gel status: 2
Added New Source
Ivone Leong (Genomics England Curator)Source Expert List was added to PMS2.
31 Jul 2017, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
30 May 2017, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PMS2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 May 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
26 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PMS2 was added to Familial ovarian cancerpanel. Sources: Emory Genetics Laboratory
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PMS2 was created by ellenmcdonagh