Gene "SIPA1"
Found 1 record
Gene information
Gene symbol:
SIPA1
See related:
Ensembl: ENSG00000213445, Gene ID: 6494
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    SIPA1:c.545C>T(p.Ser182Phe)
    Gene:
    SIPA1
    Genomic location:
    chr11:65408937
    dbSNP ID:
    rs3741378
    Target disease:
    Sporadic Breast Cancer(DOID_8029)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    rs3741378 as a novel potential sporadic breast cancer predisposition SNP.
    Reference:
    PMID19765277
    Title:
    Polymorphisms of the SIPA1 gene and sporadic breast cancer susceptibility.
    Species studied:
    Human
    Abstract:
    The novel breast cancer metastasis modulator gene signal-induced proliferation-associated 1 (Sipa1) underlies the breast cancer metastasis efficiency modifier locus Mtes 1 and has been shown to influence mammary tumour metastatic efficiency in the mouse, with an ectopically expressing Sipa1 cell line developing 1.5 to 2 fold more surface pulmonary metastases. Sipa1 encodes a mitogen-inducible GTPase activating (GAP) protein for members of the Ras-related proteins; participates in cell adhesion and modulates mitogen-induced cell cycle progression. Germline SIPA1 SNPs showed association with positive lymph node metastasis and hormonal receptor status in a Caucasian cohort. We hypothesized that SIPA1 may also be correlated to breast carcinoma incidence as well as prognosis. Therefore, this study investigated the potential relationship of SIPA1 and human breast cancer incidence by a germline SNP genotype frequency association study in a case-control Caucasian cohort in Queensland, Australia.