rs1557853926

This variant is located in the FCGR3A gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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Research that mentions this SNP (1)

Association of Polymorphisms in FCGR2A and FCGR3A With Degree of Trastuzumab Benefit in the Adjuvant Treatment of ERBB2/HER2–Positive Breast Cancer
AssociationN=1,251Gavin PG et al.(2017)· JAMA Oncology

This retrospective analysis of the NSABP B-31 randomized trial (1,251 patients with node-positive HER2-positive breast cancer) examined the association between FCGR2A and FCGR3A polymorphisms and trastuzumab benefit. The FCGR3A-158 V/F polymorphism showed significant interaction with trastuzumab treatment: patients with V/V or V/F genotypes had substantially greater benefit from trastuzumab (HR 0.31, 95% CI 0.22-0.43, P<.001 for interaction), while F/F homozygotes showed minimal benefit (HR 0.71, 95% CI 0.51-1.01). FCGR2A-131 polymorphism showed a dose-response relationship but the interaction was not statistically significant.

Traits studied:HER2-positive breast cancerTrastuzumab response

About FCGR3A

This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]

View all FCGR3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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