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  2. Familial breast cancer

Familial breast cancer (Version 1.28)

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial breast and or ovarian cancer
Panel types: Rare Disease 100K
Previous code: 55b62bc422c1fc05fc7a1857
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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Familial breast and or ovarian cancer eligibility statement

Familial breast and or ovarian cancer inclusion criteria 

Multiplex cases: 
Proband is affected by invasive breast cancer (age <50) 
- 3 family members (FDR, SDR, TDR) affected by invasive breast cancer (average age of BCs <60). 
- Samples available and to be collected from >= 2 affected relatives 

Proband only recruitment: 
- Proband is affected by breast cancer (age <50) or ovarian cancer (any age). 
- Manchester Score of family >22 
- Cases of ovarian cancer (any age) and breast cancer (<40) have been confirmed. 
- Ovarian cancers demonstrated to be invasive epithelial; mucinous and borderline tumours non-eligible (where histology available) 
- Family is not eligible for recruitment to the multiplex families breast cancer eligibility. 
- Samples to be supplied from: proband only. 

Unaffected individuals should not be recruited in this disorder. 

Familial breast and or ovarian cancer exclusion criteria 

Prior genetic testing guidance 
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. 

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out. 

Familial breast and or ovarian cancer prior genetic testing genes 
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: 
- BRCA1 
- BRCA2
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

  • 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

  • Terri McVeigh (Royal Marsden NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Lauma Freimane (Children's Clinical University Hospital)

    Group: Other
    Workplace: Other diagnostic lab

27 Entities

27 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green List (high evidence)
ATM
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, susceptibility to}, OMIM:114480
Tags
Green List (high evidence)
BARD1
5 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, susceptibility to}, OMIM:114480
Tags
Green List (high evidence)
BRCA1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, OMIM:604370
Tags
  • watchlist_moi
Green List (high evidence)
BRCA2
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
  • {Breast cancer, male, susceptibility to}, OMIM:114480
Tags
Green List (high evidence)
CDH1
6 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
Tags
Green List (high evidence)
CHEK2
4 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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
Green List (high evidence)
PALB2
4 reviews
3 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 List (high evidence)
PTEN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Green List (high evidence)
RAD51C
3 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group O, 613390
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Breast and Ovarian Cancer
  • Breast and Ovarian Cancer Susceptibility
Tags
Green List (high evidence)
RAD51D
4 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291
  • Breast and Ovarian Cancer
  • Breast and Ovarian Cancer Susceptibility
Tags
Green List (high evidence)
STK11
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Tags
Green List (high evidence)
TP53
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • 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
Amber List (moderate evidence)
ATRIP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary breast cancer
Tags
Red List (low evidence)
AR
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Tags
Red List (low evidence)
BRIP1
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Tags
Red List (low evidence)
EPCAM
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
ESR1
1 review
1 red 		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 List (low evidence)
MLH1
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
MSH2
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
MSH6
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
MUTYH
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
NBN
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
PMS2
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red List (low evidence)
PPM1D
2 reviews
2 red 		Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
Tags
Red List (low evidence)
RAD54L
1 review
1 red 		Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, invasive ductal}, 114480
  • Lymphoma, non-Hodgkin,somatic, 605027
  • Adenocarcinoma, colonic, somatic
Tags
Red List (low evidence)
RRAS2
1 review
1 red 		Unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ovarian carcinoma
Tags
Red List (low evidence)
XRCC2
1 review
1 red 		Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Breast cancer (Park (2012) Am J Hum Genet 90, 734)
Tags

Major version comments

  • Many genes are robustly associated with breast cancer but with low penetrance and no clear clinical pathway. For now, the panel has been designed to identify mutations in genes which have high penetrance and therefore confer eligibility to screening. Further research will be done via GeCIP to look at the other genes on this panel and if robust evidence develops for diagnostic utility, a re-analysis will detect these mutations in all recruited participants with familial breast cancer.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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