BRCA2

BRCA2, DNA repair associated
OMIM: 600185, Gene2Phenotype

35 panels

Panel Reviews Mode of inheritance Details
35 panels

Green BRCA2 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

review 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, 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 BRCA2 in Familial prostate cancer


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • male breast cancer and prostate cancer
  • {Prostate cancer} 176807
Tags
  • stratified-medicine

Green BRCA2 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Fanconi anemia, complementation group D1, 605724

Red BRCA2 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review Unknown
Sources
  • Literature
Phenotypes
  • non-medullary thyroid cancer

Green BRCA2 in Additional findings health related


Version 0.110

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Breast and ovarian cancer predisposition
  • Adult only
Tags
  • adult-onset

Green BRCA2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1)
  • hereditary breast, ovarian cancer
  • MDS
  • AML, Leukaemia
  • Bone marrow failure
  • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer ,Squamous cell carcinoma: oral, GI, vulvar

Green BRCA2 in Breast cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Breast cancer

Green BRCA2 in Ovarian cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ovarian cancer

Green BRCA2 in Prostate cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Prostate cancer

Green BRCA2 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
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}, 613029
  • Pancreatic cancer, 613347
  • {Glioblastoma 3},
  • Fanconi Anemia
  • Fanconi Anaemia

Green BRCA2 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Breast and Ovarian Cancer

Green BRCA2 in COVID-19 research


Level 2: Viral research
Version 1.77

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group D1, 605724
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Bone marrow failure
  • Fanconi Anemia Type D1

Green BRCA2 in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.20
Signed off v.2.2 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
  • Hereditary breast ovarian cancer syndrome, MONDO:0003582

Red BRCA2 in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer

Green BRCA2 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Signed off v.2.5 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wilms tumor, 194070
  • Fanconi Anaemia
  • {Breast cancer, male, susceptibility to}, 114480
  • Prostate cancer, 176807
  • {Medulloblastoma}, 155255
  • {Glioblastoma 3}, 613029
  • Fanconi Anemia
  • Hereditary Breast and Ovarian Cancer
  • Fanconi anemia, complementation group D1, 605724
  • {Breast-ovarian cancer, familial, 2}, 612555
  • Pancreatic cancer, 613347

Green BRCA2 in Limb disorders


Version 2.39
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group D1, 605724
    • Radial Ray abnormality

    Amber BRCA2 in Familial melanoma


    Version 1.10
    Signed off v.1.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS

    Green BRCA2 in Inherited pancreatic cancer


    Version 1.18
    Signed off v.1.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List
    Phenotypes
    • {Pancreatic cancer 2}, OMIM:613347
    • Pancreatic cancer, susceptibility to, 2, MONDO:0013235

    Green BRCA2 in Pigmentary skin disorders


    Version 1.10
    Signed off v.1.4 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • FANCD1
    • FANCONI ANEMIA, COMPLEMENTATION GROUP D1

    Red BRCA2 in Primary immunodeficiency


    Version 2.413
    Signed off v.2.1 on 24 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • IUIS Classification December 2019
    Phenotypes
    • Fanconi anemia, complementation group D1, 605724
    • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
    • Bone marrow failure
    • Fanconi Anemia Type D1

    Red BRCA2 in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green BRCA2 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    Phenotypes
    • Fanconi anemia, complementation group D1 605724

    Green BRCA2 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.14

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary Breast and Ovarian Cancer

    Green BRCA2 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary Breast and Ovarian Cancer

    Green BRCA2 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.15
    Signed off v.2.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure FA, (typ AR)
    • Fanconi anemia
    • breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1)
    • hereditary breast, ovarian cancer
    • MDS
    • AML, Leukaemia
    • Bone marrow failure
    • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer ,Squamous cell carcinoma: oral, GI, vulvar

    Green BRCA2 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.111
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Other
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group D1, 605724 (Microcephaly)

    Green BRCA2 in Confirmed Fanconi anaemia or Bloom syndrome


    Version 1.11
    Signed off v.1.7 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 605724 Fanconi anemia, complementation group D1
    • Fanconi anemia, complementation group D1, 605724

    Green BRCA2 in Fetal anomalies


    Version 1.641
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1

    Green BRCA2 in DDG2P


    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724

    Green BRCA2 in Growth failure in early childhood


    Version 1.58
    Signed off v.1.4 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group D1, 605724
    • 605724 Fanconi anemia, complementation group D1

    Red BRCA2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Fanconi anemia, complementation group D1: FANCD1 OMIM: 605724

    Amber BRCA2 in Sarcoma susceptibility


    Version 1.69
    Signed off v.1.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Sarcoma, MONDO:0005089

    Green BRCA2 in Severe Paediatric Disorders


    Version 1.75

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group D1, 605724

    Green BRCA2 in Additional findings health related - adult specific


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - adults
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Adult only
    • Breast and ovarian cancer predisposition
    Tags
    • adult-onset

    Green BRCA2 in Additional findings health related - CNV analysis adult specific


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - CNV analysis adults
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Adult only
    • Breast and ovarian cancer predisposition
    Tags
    • adult-onset