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FLASH GENE

Symbol

BARD1

contributors: mct - updated : 21-09-2022

HGNC name	BRCA1 associated RING domain 1
HGNC id	952

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       in breast and breast-ovarian cancers tumoral   deletion     homozygous deletion, in basal breast cancer tumoral germinal mutation     loss of function in patients with primary ovarian, fallopian tube, or peritoneal cancers

Susceptibility

to breast cancer to neuroblastoma

Variant & Polymorphism SNP , other	Val/Met 507 increasing the risk of breast cancer
	Cys557Ser confers a slightly increased risk of breast cancer in women
	rs6435862, rs3768716 significantly associated with high-risk neuroblastoma

Candidate gene	identification of BARD1 deletion could have clinical applications including screening for hereditary forms of breast cancer
Marker
Therapy target

ANIMAL & CELL MODELS