Genetic Insights into Endometrial Cancer: A Case Report on BRCA2 Pathogenic Variant
Author(s): Asieh Shakib, Ramin Ajami, Amineh Sadat Vaghefi
The most common female reproductive system cancers include cervical, endometrial, and ovarian cancers [1]. According to GLOBOCAN 2018, more than 1 million women (approximately 1,250,000) are affected by these cancers worldwide [2]. Endometrial cancer (EC) ranks as the fourth most common cancer in women and is the predominant gynecological malignancy in the US [12], with its incidence steadily rising. About 5% of uterine cancers are caused by a germline mutation, the majority of which are attributed to defects in mismatch repair genes, commonly associated with Lynch syndrome. Approximately 75–80% of endometrial cancers (ECs) are endometrioid adenocarcinomas. Curative treatment in this setting involves a hysterectomy resulting in the removal of the ovaries and fallopian tubes. Pathogenic variants in BRCA1 and BRCA2 genes cause hereditary breast and ovarian cancer (HBOC) syndrome, associated with an increased lifetime risk of breast, ovarian, prostate, and pancreatic cancers [6, 7]. Endometrial cancers are not formally associated with HBOC but have been reported in HBOC patients [8]. EC prevalence in BRCA1/2 carriers is not well established, but according to the literature, most cases are related to BRCA1. Here, we discuss a particular EC patient harboring a BRCA2 mutation.