Inherited non-medullary thyroid cancer
Gene: MSH2
MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. Three variants reported. Thyroid cancer has been seen as an additional tumour in Lynch syndrome (PMID 22714864)Created: 7 Aug 2017, 11:30 a.m.
Three variants reported in three families, segregation demonstrated in one familyCreated: 21 Jun 2017, 3:16 p.m.
Mode of inheritance
Unknown
Phenotypes
Familial Non-medullary Thyroid Cancer
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Familial Non-medullary Thyroid Cancer
- OMIM
- 609309
- Clinvar variants
- Variants in MSH2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Genodermatoses with malignancies
- Inherited pancreatic cancer
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Inherited MMR deficiency (Lynch syndrome)
- Inherited renal cancer
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Endocrine neoplasia
- Prostate cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Fetal anomalies
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
History Filter Activity
7 Aug 2017, Gel status: 2
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
7 Aug 2017, Gel status: 2
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MSH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
7 Aug 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
7 Aug 2017, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for MSH2 were set to 26530882; 22714864
7 Aug 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
21 Jun 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)MSH2 was created by sleigh
21 Jun 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)MSH2 was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature