Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 |
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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 |
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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 |
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0.780 | GeneticVariation | BEFREE | Caveolin-1 (Cav-1) mutations, such as P132L, are associated with ER-positive human breast cancers. | 19342880 | 2009 |
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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 |
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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 |
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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 |
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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 |
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0.780 | GeneticVariation | UNIPROT |