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Inherited ovarian cancer (without breast cancer)
Gene: BRCA2

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); {Pancreatic cancer 2} (MIM# 613347); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Created: 3 Mar 2021, 11:53 a.m. | Last Modified: 3 Mar 2021, 1:58 p.m.

Panel Version: 2.20

Created: 3 Mar 2021, 11:53 a.m.
Last Modified: 3 Mar 2021, 1:58 p.m.
Panel version: 2.7

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

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

29661970

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

Created: 29 Jan 2019, 4:32 p.m.

Panel version: 1.5

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 29 Jan 2019, 4:32 p.m.

Panel version: 1.5

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

Created: 29 Aug 2017, 12:58 p.m.

Panel version: 1.0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green after review by Clare Turnbull.
Created: 30 May 2017, 10:54 a.m.

Created: 30 May 2017, 10:54 a.m.

Panel version: 0.7

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Created: 28 May 2017, 5:47 p.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert List
Expert Review Green
Eligibility statement prior genetic testing
UKGTN
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

{Breast-ovarian cancer, familial, 2}, OMIM:612555
Hereditary breast ovarian cancer syndrome, MONDO:0003582

OMIM

600185

Clinvar variants

Variants in BRCA2

Penetrance

Complete

Publications

29661970

Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; Hereditary breast ovarian cancer syndrome, MONDO:0003582

29 Jan 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BRCA2 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 BRCA2. Source NHS GMS was added to BRCA2. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 Jul 2017, Gel status: 4