Monogenic Contributions to Familial Endometriosis: A Scoping Review.

ABSTRACT:

Introduction

Endometriosis is a chronic gynecological disorder characterized by the ectopic growth of endometrial-like tissue, with emerging evidence highlighting a significant genetic contribution to its etiology. While genome-wide association studies have identified multiple common variants associated with sporadic endometriosis, the contribution of rare variants in familial endometriosis remains understudied. This scoping review aims to collate the published literature on familial endometriosis and systematically curate the genetic findings reported for familial endometriosis, including details of genetic variants, gene functions, and their associated biological pathways, to explore the monogenic inheritance of this disorder.

Methods

This scoping review adhered to the PRI

SUBMITTER: Joshy LE 

PROVIDER: S-EPMC12695108 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature