Question 1

What is the Meaning of Rs700519?

Accepted Answer

A specific single nucleotide polymorphism (SNP) identified by the reference SNP cluster ID rs700519, located within the gene CYP19A1 that encodes the aromatase enzyme. This genetic variation is investigated for its role in modulating the transcription or expression of aromatase, thereby influencing endogenous estrogen production and the pharmacological efficacy of aromatase inhibitors. It provides valuable insight into an individual's inherent hormonal and drug response profile.

Question 2

What is the Origin of Rs700519?

Accepted Answer

The identifier rs700519 is a standardized code from the dbSNP database, representing a specific site of genetic variation in the human genome. Its clinical relevance was established through pharmacogenetic studies that sought to link genetic variations in the aromatase gene with clinical outcomes, particularly bone mineral density loss and recurrence risk in women treated for breast cancer.

Question 3

What is the Mechanism of Rs700519?

Accepted Answer

The rs700519 polymorphism is thought to reside in a regulatory region of the CYP19A1 gene, influencing the efficiency of gene transcription. A specific allele at this locus may lead to either higher or lower baseline aromatase expression in peripheral tissues, which correlates with pre-treatment estrogen levels. This difference in baseline enzyme activity can subsequently affect the degree of estrogen suppression achieved by a fixed dose of an aromatase inhibitor, contributing to the observed variability in patient response and side effect profiles.

Rs700519

Meaning

Origin

Mechanism

How Do Genetic Variations Affect Aromatase Inhibitor Side Effects?

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