Description
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

7 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

  • 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, 10 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green 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 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 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 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 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 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 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 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 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 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 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 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 Red List (low evidence)
BARD1
2 reviews
1 red 		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)
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 Red List (low evidence)
CDH1
5 reviews
2 green 1 red 		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
  • lobular breast cancer
Tags
Red Red List (low evidence)
EPCAM
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red 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 Red List (low evidence)
MLH1
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
MSH2
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
MSH6
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
MUTYH
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
NBN
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
PMS2
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Tags
Red Red List (low evidence)
PPM1D
2 reviews
2 red 		Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
Tags
Red 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 Red List (low evidence)
RRAS2
1 review
1 red 		Unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ovarian carcinoma
Tags
Red 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

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