Tag

Cancer Screening

14 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
rs6983267	8q24	Intergenic enhancer variant near MYC oncogene — modestly increases colorectal...	Cancer Risk	Cancer Risk Cancer Screening Prostate	Established
rs1801155	APC I1307K	Missense variant in the APC tumor suppressor that creates a hypermutable poly...	Cancer Risk	Cancer Risk Tumor Suppressor Colorectal Cancer	Strong
rs1799793	ERCC2 D312N	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Cancer Risk	Cancer Risk DNA Repair Cancer Screening	Strong
rs25487	XRCC1 R399Q	Base excision repair scaffold protein that coordinates repair of oxidative DN...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	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
rs1805794	NBN E185Q	Component of the MRN complex essential for DNA double-strand break repair, te...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Strong
rs2279744	MDM2 SNP309 T>G	Regulatory variant in the MDM2 promoter that increases Sp1 transcription fact...	Cancer Risk	Cancer Risk p53 Pathway Tumor Suppressor	Strong
rs1800734	MLH1 -93G>A	Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript...	Cancer Risk	Cancer Risk Mismatch Repair Colorectal Cancer	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
rs1867277	FOXE1 c.-283G>A	Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr...	Cancer Risk	Thyroid Cancer Risk Hormones & Thyroid	Strong
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