Gene "PALB2"
Found 1 record
Gene information
Gene symbol:
PALB2
See related:
Ensembl: ENSG00000083093, Gene ID: 79728
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:
    PALB2:c.3113G>A(p.Trp1038*)
    Gene:
    PALB2
    Genomic location:
    chr16:23632683
    dbSNP ID:
    rs180177132
    Target disease:
    Breast Cancer(DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=30.1, 95% CI: 7.5 to 120; P<0.0001 
    Effect:
    The PALB2 c.3113G > A mutation appears to be associated with substantial risks of breast cancer that are of clinical relevance.
    Reference:
    PMID21182766
    Title:
    A PALB2 mutation associated with high risk of breast cancer.
    Species studied:
    Human
    Abstract:
    As a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (PALB2) are at increased risk of breast cancer. Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history.