PhenoModifier-Variant Detail

Variant "XRCC1:c.839G>A(p.Arg280His)"

Search result: 1 record

Variant information

Gene:

XRCC1

Variant:

XRCC1:c.839G>A(p.Arg280His)

Genomic location:

chr19:44056412(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_006297.2:c.839G>C(p.Arg280Pro)

dbSNP ID:

rs25489

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:

HR=22.3, 95% CI: 14.3-34, P<0.001

Effect:

An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes

Reference:

PMID21427728

Title:

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

Species studied:

Human

Abstract:

Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, PARP1, and both BRCA1 and BRCA2. In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2.