Open AccessMultiple Mutations in Exon-2 of Med-12 Identified in Uterine Leiomyomata
Author(s) -
Ruqia Firdaus,
Prabha Agrawal,
Manjula Anagani,
Kodati Vijayalakshmi,
Qurratulain Hasan
Publication year - 2021
Publication title -
journal of reproduction and infertility
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.495
H-Index - 22
eISSN - 2251-676X
pISSN - 2228-5482
DOI - 10.18502/jri.v22i3.6720
Subject(s) - exon , biology , sanger sequencing , uterine fibroids , myometrium , uterus , cancer research , germline mutation , pathology , gene , genetics , medicine , mutation
Uterine leiomyomata (UL), commonly known as uterine fibroids, are benign smooth muscle tumors of the myometrium. They cause pelvic pain, abnormal uterine bleeding, and infertility in women of reproductive age. The ovarian hormone estrogen is the main stimulator for the fibroid growth. The etiology is not yet clearly understood; however, UL are believed to be monoclonal tumors arising from a common progenitor cell. Chromosomal cytogenetic abnormalities have been demonstrated in 40-50% of the fibroids. The most frequent tumor specific genetic alterations in UL were identified in exon-2 of Mediator Complex Subunit 12 (MED-12).