BRCA1

BRCA1, DNA repair associated
OMIM: 113705, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 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 0.76

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Additional Findings
  • ACMG
Phenotypes
  • ENST00000357654.8
  • 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 Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • UKGTN
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 1.36

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

Green BRCA1 in Tumour predisposition - adult onset


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Adult solid tumours for rare disease (Version 1.21)
Phenotypes
  • Hereditary Breast and Ovarian Cancer

Amber BRCA1 in Inherited pancreatic cancer


Version 1.0

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

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 1.5

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 1.7

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 1.19

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 1.0

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 0.344

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

Green BRCA1 in DDG2P


Version 1.137

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 2.1066

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