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rs9306160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) 1.2 0.75x (reduced) risk for metastasis in LN-/ER+ breast cancer patients
(T;T) 1.3 0.75x (reduced) risk for metastasis in LN-/ER+ breast cancer patients
ReferenceGRCh38 38.1/141
Chromosome21
Position43687681
GeneRRP1B
is asnp
is mentioned by
dbSNPrs9306160
ebirs9306160
HLIrs9306160
Exacrs9306160
Varsomers9306160
Maprs9306160
PheGenIrs9306160
hapmaprs9306160
1000 genomesrs9306160
hgdprs9306160
ensemblrs9306160
gopubmedrs9306160
geneviewrs9306160
scholarrs9306160
googlers9306160
pharmgkbrs9306160
gwascentralrs9306160
openSNPrs9306160
23andMers9306160
23andMe allrs9306160
SNP Nexus

SNPshotrs9306160
SNPdbers9306160
MSV3drs9306160
GWAS Ctlgrs9306160
GMAF0.2323
Max Magnitude1.3
? (C;C) (C;T) (T;T) 28
rs9306160, also known as Pro436Leu, is a SNP in the ribosomal RNA processing 1 homolog B RRP1B gene.

In a study of 1,725 LN=/ER+ breast cancer patients, carriers of a rs9306160(T) allele showed a reduced metastasis risk compared to rs9306160(C;C) patients. This association was statistically significant for both disease-free survival (DFS) and metastasis-free survival (MFS) in multivariate analysis [DFS hazard ratio 0.75, CI: 0.60–0.94, p=0.013), MFS HR 0.70, CI: 0.54–0.91, p=0.009) and overall survival (HR 0.78, CI:0.59–1.03, p=0.082)].[PMID 19825179OA-icon.png]

This study also found that rs9306160 can be combined with an independent predictor of metastasis free survival, rs2448490, to yield an even stronger prognostic. Specifically, the risk for developing distant metastasis was about 2.5-fold lower (hazard ratio 0.40, CI: 0.24-0.68, p=0.001) for LN-/ER+ breast cancer patients who were rs2448490(A;A) and rs9306160(T) carriers compared to patients who were rs2448490(G) carriers and rs9306160(C;C). [PMID 19825179OA-icon.png]

Note: the allele frequencies shown in the SNPedia-associated graphic are auto-generated from data that are likely to be incorrect. In the survey of 1,863 breast cancer cases cited [PMID 19825179OA-icon.png] the authors noted a frequency of 42.5% for rs9306160(T). This is likely to be close to the frequency in the general population.


GET Evidence
RRP1B-L436P
aa_change Leu436Pro
aa_change_short L436P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.704859
summary