Description
This panel is used for clinical indication 'R207 Inherited ovarian cancer (without breast cancer)' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R207 Inherited ovarian cancer (without breast cancer)'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel was created to cover ovarian cancer genes for patients recruited under Familial Breast and or Ovarian Cancer within the 100,000 Genomes Project.
Panel Activity

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rachel Robinson (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • marc tischkowitz (university of cambridge)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

26 Entities

10 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
Green Green List (high evidence)
BRCA1
6 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, OMIM:604370
  • Hereditary breast ovarian cancer syndrome, MONDO:0003582
Tags
Green Green List (high evidence)
BRCA2
7 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
  • Hereditary breast ovarian cancer syndrome, MONDO:0003582
Tags
Green Green List (high evidence)
BRIP1
6 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • familial ovarian cancer, MONDO:0016248
Tags
Green Green List (high evidence)
MLH1
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ovarian cancer, MONDO:0008170
Tags
Green Green List (high evidence)
MSH2
7 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ovarian cancer, MONDO:0008170
Tags
Green Green List (high evidence)
MSH6
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ovarian cancer, MONDO:0008170
Tags
Green Green List (high evidence)
PALB2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • {Breast cancer, susceptibility to}, 114480
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Green Green List (high evidence)
RAD51C
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399
  • Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253
Tags
Green Green List (high evidence)
RAD51D
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291
  • Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669
Tags
Amber Amber List (moderate evidence)
PMS2
4 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Amber
Phenotypes
  • Ovarian cancer, MONDO:0008170
Tags
Red Red List (low evidence)
AR
0 reviews
 Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Androgen insensitivity, OMIM:300068
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Tags
Red Red List (low evidence)
ATM
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, susceptibility to}, OMIM:114480
Tags
Red Red List (low evidence)
BARD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, susceptibility to}, 114480
  • Breast Cancer
Tags
Red Red List (low evidence)
CDH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Endometrial carcinoma, somatic, 608089
  • Ovarian carcinoma, somatic, 167000
  • {Breast cancer, lobular}, 114480
  • Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215
  • {Prostate cancer, susceptibility to}, 176807
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
CHEK2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Li-Fraumeni syndrome, 609265
  • Osteosarcoma, somatic, 259500
  • {Breast cancer, susceptibility to}, 114480
  • {Prostate cancer, familial, susceptibility to}, 176807
  • {Breast and colorectal cancer, susceptibility to}
  • Breast and Ovarian Cancer
  • Breast Cancer
Tags
Red Red List (low evidence)
EPCAM
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
ESR1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Estrogen resistance, 615363
  • {HDL response to hormone replacement, augmented}
  • {Migraine, susceptibility to}, 157300
  • {Atherosclerosis, susceptibility to}
  • {Myocardial infarction, susceptibility to}, 608446
  • {Breast cancer}, 114480 (1)
Tags
Red Red List (low evidence)
MUTYH
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
NBN
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
PPM1D
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
Tags
Red Red List (low evidence)
PTEN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
RAD54L
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, invasive ductal}, 114480
  • Lymphoma, non-Hodgkin,somatic, 605027
  • Adenocarcinoma, colonic, somatic
Tags
Red Red List (low evidence)
RRAS2
0 reviews
 Unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ovarian carcinoma
Tags
Red Red List (low evidence)
STK11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
TP53
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, 114500
  • Li-Fraumeni syndrome, 151623
  • Hepatocellular carcinoma, 114550
  • Osteosarcoma, 259500
  • Choroid plexus papilloma, 260500
  • Nasopharyngeal carcinoma, 607107
  • Pancreatic cancer, 260350
  • Adrenal cortical carcinoma, 202300
  • Breast cancer, 114480
  • {Basal cell carcinoma 7}, 614740
  • {Glioma susceptibility 1}, 137800
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
XRCC2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Breast cancer (Park (2012) Am J Hum Genet 90, 734)
Tags

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