Inherited ovarian cancer (without breast cancer)

Gene: MSH2

Green List (high evidence)

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 36 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Created: 3 Mar 2021, 12:21 p.m. | Last Modified: 3 Mar 2021, 12:21 p.m.
Panel Version: 2.13

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 there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:23 p.m. | Last Modified: 31 Jul 2019, 12:23 p.m.
Panel Version: 1.9

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Treena Cranston (Oxford)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

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, 11:27 a.m.
Comment on list classification: Promoted to green due to expert review.
Created: 30 May 2017, 11:20 a.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Ovarian cancer, MONDO:0008170
OMIM
609309
Clinvar variants
Variants in MSH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSH2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170

3 Mar 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MSH2 were set to

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to MSH2. Source NHS GMS was added to MSH2. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 Jul 2017, Gel status: 4

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: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

30 May 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).

30 May 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).

30 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MSH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 May 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).

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MSH2 was created by ellenmcdonagh

26 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Familial ovarian cancerpanel. Sources: Emory Genetics Laboratory