Background: Estrogen receptors (ER) belong to the super-family of the nuclear hormone receptors which act as ligand-regulated transcription factor to control a diverse set of essentials functions, such as growth development, metabolism, and reproduction. Though, the involvement of these receptors in several diseases including cancer was shown in numerous studies.
Aim: Here, we reviewed the literature to report genetic polymorphisms and mutations investigated in the ESR genes (α and β) and to explore their relationship and their potential role to develop some diseases as well as the ER expression status especially in cancer.
Methods: We searched the MEDLINE database with the keywords of estrogens receptors gene polymorphisms, short tandem repeat (STR) sequences, single-nucleotide polymorphisms (SNPs), cancer risk and diseases susceptibility.
Results: The functional effects of some mutations, short nucleotide polymorphisms and STR polymorphisms of ESR gene on susceptibility of multiple diseases, especially on cancer risk, are well approved.
Conclusions: The involvement of genetic variations of the ERs in the risk of multiples diseases is frequently established, which incite to more elucidate the functional role of these markers in cell. Therefore, further investigations are needed to see the impact of these variations in drug response which makes them suitable therapeutic.