Genomics England

BRCA1

BRCA1, DNA repair associated

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hereditary Breast and Ovarian Cancer
Green in Breast cancer pertinent cancer susceptibility Signed-off version 2.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group S, OMIM:617883
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INTELLECTUAL DISABILITY 616579
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anaemia, complementation group S, OMIM:617883
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group S, OMIM:617883
Green in Inherited breast cancer and ovarian cancer R-numbers: R208 Signed-off version 2.5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370
Green in Inherited ovarian cancer (without breast cancer) R-numbers: R207 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370, Hereditary breast ovarian cancer syndrome, MONDO:0003582
Green in Inherited pancreatic cancer R-numbers: R367 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Pancreatic cancer, susceptibility to, 4}, OMIM:614320, Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Green in Inherited prostate cancer R-numbers: R430 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in NICE approved PARP inhibitor treatment R-numbers: R444 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370, Fanconi anemia, complementation group S, OMIM:617883
Green in Ovarian cancer pertinent cancer susceptibility Signed-off version 2.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group S, OMIM:617883