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

5 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

26 genes

26 reviewed, 10 green

List Gene Reviews Mode of inheritance Details
26 genes
Green Green List (high evidence)
ATM
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Ataxia-telangiectasia, 208900
  • Lymphoma, B-cell non-Hodgkin, somatic
  • {Breast cancer, susceptibility to}, 114480
  • Lymphoma, mantle cell
  • T-cell prolymphocytic leukemia, somatic
  • Breast and Ovarian Cancer
Green Green List (high evidence)
BRCA1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, 604370
  • {Pancreatic cancer, susceptibility to, 4}, 614320
  • Hereditary Breast and Ovarian Cancer
  • Hereditary Breast and Ovarian Cancer Syndrome
  • Breast and Ovarian Cancer
  • High Risk Breast Cancer
  • Breast cancer
Green Green List (high evidence)
BRCA2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • {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
Green Green List (high evidence)
CHEK2
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • 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
Green Green List (high evidence)
PALB2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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
Green Green List (high evidence)
PTEN
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Green Green List (high evidence)
RAD51C
3 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • 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
Green Green List (high evidence)
RAD51D
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291
  • Breast and Ovarian Cancer
  • Breast and Ovarian Cancer Susceptibility
Green Green List (high evidence)
STK11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Green Green List (high evidence)
TP53
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
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
Red Red List (low evidence)
AR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Androgen insensitivity, 300068
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • {Prostate cancer, susceptibility to}, 176807
  • Hypospadias 1, X-linked, 300633
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
Red Red List (low evidence)
BRIP1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Breast cancer, early-onset, 114480
  • Fanconi anemia, complementation group J, 609054
  • Breast and Ovarian Cancer
  • Breast Cancer
Red Red List (low evidence)
CDH1
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Emory Genetics Laboratory
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
Red Red List (low evidence)
EPCAM
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
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)
Red Red List (low evidence)
MLH1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Red Red List (low evidence)
MSH2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Red Red List (low evidence)
MSH6
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Red Red List (low evidence)
MUTYH
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Red Red List (low evidence)
NBN
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Red Red List (low evidence)
PMS2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Red Red List (low evidence)
PPM1D
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
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
Red Red List (low evidence)
RRAS2
1 review
1 red
Unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ovarian carcinoma
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)

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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