Tag

Breast Cancer

7 genetic variants with this tag.

RSID	Gene	Description	Category
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Established
rs700518	CYP19A1 Val80	Synonymous variant in aromatase gene affecting estrogen production, bone dens...	Hormones & Sleep	Hormones Estrogen Bone Health	Strong
rs11571833	BRCA2 K3326X	Moderate-penetrance stop-gain variant truncating the last 93 amino acids of B...	Cancer Risk	Cancer Risk BRCA DNA Repair	Strong
rs16941	BRCA1 E1038G	Common missense variant in BRCA1 with debated association to modest breast ca...	Cancer Risk	Cancer Risk BRCA DNA Repair	Moderate
rs1799950	BRCA1 Q356R	Common missense variant near the BRCA1 RING finger domain; associated with mo...	Cancer Risk	Cancer Risk BRCA DNA Repair	Moderate
rs17879961	CHEK2 I157T	Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding ...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Strong
rs2228000	XPC Ala499Val	Missense variant in the DNA damage recognition gene XPC that moderately reduc...	Cancer Risk	Cancer Risk DNA Repair Bladder Cancer	Moderate