Variant "PALB2:c.3113G>A(p.Trp1038*)"
Search result: 1 record
Variant information
Gene:
PALB2 
Variant:
PALB2:c.3113G>A(p.Trp1038*) 
Genomic location:
chr16:23632683(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_024675.3:c.3113G>A(p.Trp1038*)
protein_coding 2W18:A_1007-A_1038:NM_024675.3:c.3113G>A
protein_coding 3EU7:A_1007-A_1038:NM_024675.3:c.3113G>A
dbSNP ID:
rs180177132  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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.