BRCA1

BRCA1, DNA repair associated
OMIM: 113705, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Green BRCA1 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, 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

Amber BRCA1 in Familial prostate cancer


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Tags
  • stratified-medicine

Red BRCA1 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.4

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

Green BRCA1 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 BRCA1 in Haematological malignancies for rare disease

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar

Green BRCA1 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 BRCA1 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 BRCA1 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 list
  • Expert Review Green
Phenotypes
  • Hereditary Breast and Ovarian Cancer

Green BRCA1 in COVID-19 research


Level 2: Viral research
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group S, 617883
  • normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Bone marrow failure
  • Fanconi Anemia Type S

Green BRCA1 in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.3
Signed off v.2.2 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
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

Red BRCA1 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 BRCA1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.7
Signed off v.2.5 on 4 Mar 2020

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

Amber BRCA1 in Inherited pancreatic cancer


Version 1.4
Signed off v.1.2 on 4 Mar 2020

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

Green BRCA1 in Pigmentary skin disorders


Version 1.3
Signed off v.1.2 on 19 Feb 2020

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

Red BRCA1 in Primary immunodeficiency


Version 2.175
Signed off v.2.1 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group S, 617883
  • normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Bone marrow failure
  • Fanconi Anemia Type S

Amber BRCA1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Fanconi anemia

Green BRCA1 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.6

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

Green BRCA1 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.3
Signed off v.2.2 on 18 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Breast and Ovarian Cancer

Green BRCA1 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.3
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
  • MDS
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar

Green BRCA1 in Confirmed Fanconi anaemia or Bloom syndrome


Version 1.5
Signed off v.1.2 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Fanconi anemia
  • 617883 Fanconi anemia, complementation group S

Red BRCA1 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY

Green BRCA1 in DDG2P


Version 2.8
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
    • INTELLECTUAL DISABILITY 616579

    Red BRCA1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.79
    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
    Phenotypes
    • {Breast-ovarian cancer, familial, 1} 604370 autosomal dominant
    • {Pancreatic cancer, susceptibility to, 4} 614320 autosomal dominant
    • intellectual disability recessive

    Green BRCA1 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group S, 617883

    Green BRCA1 in Additional findings health related - adult specific


    Version 0.19

    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 BRCA1 in Additional findings health related - CNV analysis adult specific


    Version 0.19

    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