rs11643617 - SLC38A7 - GOT2
Magnitude 2.2 · 1 study on file
Reported associations
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Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome‐Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2 - Unknown journal (n.d.) · Unknown authors · PubMed 30648747
ABSTRACT: Anastrozole is a widely prescribed aromatase inhibitor for the therapy of estrogen receptor positive (ER+) breast cancer. We performed a genome‐wide association study (GWAS) for plasma anastrozole concentrations in 687 postmenopausal women with ER+ breast cancer. The top single‐nucleotide polymorphism (SNP) signal mapped across SLC38A7 (rs11648166, P = 2.3E‐08), which we showed to encode an anastrozole influx transporter. The second most significant signal (rs28845026, P = 5.4E‐08) mapped near ALPPL2 and displayed epistasis with the SLC38A7 signal. Both of these SNPs were cis expression quantitative trait loci (eQTL)s for these genes, and patients homozygous for variant genotypes for both SNPs had the highest drug concentrations, the highest SLC38A7 expression, and th
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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anastrozole dosing for ER+ breast cancer Moderate
C allele at rs11643617 is associated with higher plasma anastrozole concentration in ER+ breast cancer patients, potentially affecting efficacy and side effect risk.
Discuss with oncologist whether anastrozole therapeutic drug monitoring is warranted.