Tag

Breast Cancer

16 genetic variants with this tag.

RSID	Gene	Description	Category
rs11571833	BRCA2 K3326X	Moderate-penetrance stop-gain variant truncating the last 93 amino acids of B...	Cancer Risk	Breast Cancer	Strong
rs16941	BRCA1 E1038G	Common missense variant in BRCA1 with debated association to modest breast ca...	Cancer Risk	Breast Cancer	Moderate
rs17879961	CHEK2 I157T	Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding ...	Cancer Risk	Breast Cancer	Strong
rs1799950	BRCA1 Q356R	Common missense variant near the BRCA1 RING finger domain; associated with mo...	Cancer Risk	Breast Cancer	Moderate
rs2228000	XPC Ala499Val	Missense variant in the DNA damage recognition gene XPC that moderately reduc...	Cancer Risk	Breast Cancer	Moderate
rs2046210	ESR1 ESR1 rs2046210	Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;...	Endometriosis & Uterine Health	Breast Cancer	Strong
rs2747648	ESR1 ESR1 3′UTR miR-453 site	3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity...	Reproductive Hormones	Breast Cancer	Moderate
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	Breast Cancer	Established
rs72755295	EXO1 EXO1 mismatch repair variant	Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhan...	Gamete Quality & DNA Repair	Breast Cancer	Moderate
rs4775936	CYP19A1 CYP19A1 Promoter Region Variant (Aro1)	Regulatory variant in the CYP19A1 aromatase gene that alters estrogen biosynt...	Reproductive Hormones	Breast Cancer	Moderate
rs7167936	CYP19A1 CYP19A1 intronic variant	Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b...	Reproductive Hormones	Breast Cancer	Emerging
rs2881766	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha that alters ESR1 expression and h...	Vascular Inflammation & Remodeling	Breast Cancer	Moderate
rs727479	CYP19A1	Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is th...	Reproductive Hormones	Breast Cancer	Strong
rs6557160	CCDC170/ESR1	Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL f...	Endometriosis & Uterine Health	Breast Cancer	Strong
rs9383935	CCDC170	3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel...	Endometriosis & Uterine Health	Breast Cancer	Moderate
rs700518	CYP19A1 Val80	Synonymous variant in aromatase gene affecting estrogen production, bone dens...	Hormones & Sleep	Breast Cancer	Strong