Description
This content of this panel has not yet been signed off under NHS Genomic Medicine Service governance.

This panel will be used for clinical indication 'R208 Inherited breast cancer and ovarian 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 'R208 Inherited breast cancer and ovarian cancer'.

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 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.

5 reviewers

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Paul Pharoah (University of Cambridge)

    Group: Other NHS organisation
    Workplace: Research lab

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

5 Entities

5 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
ATM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • {Breast cancer, susceptibility to}, OMIM:114480
Tags
Green Green List (high evidence)
BRCA1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, OMIM:604370
Tags
  • Q2_22_expert_review
  • Q2_22_MOI
Green Green List (high evidence)
BRCA2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
Tags
Green Green List (high evidence)
CHEK2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • {Breast cancer, susceptibility to}, OMIM:114480
Tags
Green Green List (high evidence)
PALB2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • {Breast cancer, susceptibility to}, OMIM:114480
Tags

Downloads

Download lists

Download Version