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FLASH GENE

Symbol

BRCA1

contributors: mct/shn - updated : 03-06-2020

HGNC name	breast cancer 1, early onset
HGNC id	1100

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BRCA1 , FANCS

related resource

Breastcancer

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   or loss of function in breast, ovarian carcinomas (sporadic or not) tumoral germinal mutation       increased risk of Prostate carcinoma in men constitutional     --over   in proliferative cells tumoral germinal mutation     loss of function in patients with primary ovarian, fallopian tube, or peritoneal cancers tumoral       loss of function BRCA1 loss activates CTSL1-mediated degradation of TP53BP1 tumoral       loss of function loss of BRCA1 following HSP90AA1 inhibition is a key upstream event leading to defective DSB repair, failure of G2/M checkpoint activation, and potentiation to DNA damaging agents

Susceptibility

to breast cancer

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     clinically relevant target for enhancing sensitivity in refractory and/or resistant malignancies cancer     MIR155 is a potential therapeutic target for BRCA1-deficient tumors cancer metastases   Treatment of Brca1/p53-deficient mice with the progesterone antagonist mifepristone (RU 486) prevented mammary tumorigenesis cancer     is a clinically relevant target for enhancing sensitivity in refractory and/or resistant malignancies

ANIMAL & CELL MODELS

	mice homozygous for the mutant BRCA1 allele died in utero between 10 and 13 days of gestation due to abnormalities in the neural tube, spina bifida and anencephaly
	Brca1+/- mice are normal and fertile and lack tumors by age eleven months, while Brca1-/- mice die before day 7.5 of embryogenesis due to a failure of the proliferative burst
	Brca1-deficient mouse embryonic stem cells have impaired repair of chromosomal DNA double-strand breaks by homologous recombination
	impact of the Brca1 or Brca2 null mutation is less severe in a p53 null background
	mice deficient in the Brca1 exon 11 isoform (Brca1Delta11/Delta11) died late in gestation because of widespread apoptosis
	most female Brca1Delta11/Delta11 Trp53+/- mice develop mammary tumors with loss of the remaining Trp53 allele within 6-12 months
	Brca1(Delta11/Delta11)Gadd45a(-/-) embryos at embryonic days 9.5-10.5 were exencephalic and exhibited a high incidence of apoptosis accompanied by altered levels of BAX, BCL-2, and p53