Link between the ESR2 (rs3020449) polymorphism and breast cancer risk in Bangladeshi women

Worldwide, breast carcinoma represents the single most widespread disease among women as well as the second most prevalent malignancy overall. This condition is heterogeneous, comprising multiple distinguished subgroups characterized by unique gene transcription variations and varying mortality rates. Multiple diverse studies suggest that estrogen receptor gene polymorphisms might impact BC susceptibility and formation, which may alter receptor function, tumor expansion, and sensitivity to hormonal therapies. These genes regulate estrogen signaling pathways, affecting breast cancer (BC) formation. The linkage of various polymorphisms of ESR2 gene on BC development is not comprehended. Hence, our objective was to scrutinize the correlation among the ESR2 (rs3020449) polymorphism and BC risk in Bangladeshi women. A case-control genetic association study was undertaken on 209 clinically diagnosed BC female patients against 201 healthy women of Bangladeshi ethnicity using the amplification refractory mutation system polymerase chain reaction (ARMS-PCR). We evaluated p-value, odds ratio (OR) and 95% confidence interval (95% CI) for comprehending the level of risk association of rs3020449. This SNP showed reduced risk in AG vs. AA (heterozygous/additive) model where, OR = 0.58, 95% CI = 0.38 to 0.90, p = 0.015. Moreover, rs3020449 indicated a lower tumor aggressiveness in tumor grade (II vs. I) with the statistics of OR = 0.3138, 95% CI = 0.10 to 0.96, p = 0.043 and in tumor staging, both stage-II (OR = 0.37, 95% CI = 0.15 to 0.90, p = 0.028) and stage-IV (OR = 0.16, 95% CI = 0.05 to 0.53, p = 0.002) against Stage-I. The findings of the research suggested that ESR2 (rs3020449) polymorphism may decrease the risk of BC formation and progression in Bangladeshi women.