Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE To better understand the molecular basis for trafficking defects that trap caveolin-1 intracellularly, we compared the properties of a GFP-tagged version of caveolin-1 P132L, a mutant form of caveolin-1 previously linked to breast cancer, with wild-type caveolin-1. 23469926

2013

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE None of the reported CAV1 gene mutations, including CAV1 (P132L), were identified in either clinical samples (95% CI: 0-1.5%) or human breast cancer cell lines analysed. 21909981

2012

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE These results raise doubt about the presence of the caveolin-1 P132L mutation in breast cancer and other cancer types, and thus further studies are warranted. 20581046

2010

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE Caveolin-1 (Cav-1) mutations, such as P132L, are associated with ER-positive human breast cancers. 19342880

2009

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE Caveolin-1 (P132L), a common breast cancer mutation, confers mammary cell invasiveness and defines a novel stem cell/metastasis-associated gene signature. 19395651

2009

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE We report that the Cav-1 P132L mutation is present in approximately 19% of estrogen receptor alpha (ERalpha)-positive breast cancers but not in ERalpha-negative breast cancers. 16723714

2006

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE Genetic evidence from the study of Cav-1(-/-) null mice and human breast cancer mutations [CAV-1 (P132L)] supports the idea that caveolin-1 normally functions as a negative regulator of cell transformation and mammary tumorigenesis. 15692148

2005

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation BEFREE To understand the role of the Cav-1 (P132L) mutation in the pathogenesis of human breast cancers, we generated the same mutation in wild-type (WT) Cav-1 and studied its behavior in cultured cells. 12368209

2002

dbSNP: rs1213469537
rs1213469537
0.780 GeneticVariation UNIPROT