Variant "XRCC3:c.722C>T(p.Thr241Met)"
Search result: 1 record
Variant information
Gene:
XRCC3 
Variant:
XRCC3:c.722C>T(p.Thr241Met) 
Genomic location:
chr14:104165753(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001100118.1:c.722C>T(p.Thr241Met)
protein_coding NM_001100119.1:c.722C>T(p.Thr241Met)
protein_coding NM_005432.3:c.722C>T(p.Thr241Met)
protein_coding NM_001130107.1:c.1782-1239G>A
protein_coding NM_182923.3:c.1651-1239G>A
dbSNP ID:
rs861539  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Hereditary Breast Cancer (Orphanet_227535)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.21, 95% CI: 1.42-3.44; P<0.001 
    Effect:
    XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancer
    Reference:
    PMID17063276
    Title:
    DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population.
    Species studied:
    Human
    Abstract:
    The purpose of this study was to evaluate the role of polymorphisms in DNA repair genes as genetic indicators of susceptibility to familial and sporadic breast cancer. We analysed DNA samples from 285 breast cancer patients and 442 control subjects, for XRCC1 Arg399Gln, XPD Lys751Gln, RAD51 G135C and XRCC3 Thr241Met polymorphisms using PCR-RFLP. We observed that women carriers of XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this disease (OR = 0.54 95% CI 0.35-0.84; p = 0.006). Furthermore, we found that carriers of XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancer (OR = 2.21 95% CI 1.42-3.44; p < 0.001). Additionally, we verified an increased risk of breast cancer in women with FH and carrying RAD51 135C genotypes (OR = 2.17 95% CI 1.19-3.98; p = 0.012). Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomarkers to sporadic breast cancer susceptibility, as well as, RAD51 G135C polymorphism as a real risk modifier in familial breast cancer cases.