scholarly journals Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

2021 ◽  
Author(s):  
Pik Fang Kho ◽  
Sally Mortlock ◽  
Frederic Amant ◽  
Daniela Annibali ◽  
Katie Ashton ◽  
...  
2020 ◽  
Author(s):  
Pik Fang Kho ◽  
Sally Mortlock ◽  
Peter A.W. Rogers ◽  
Dale R. Nyholt ◽  
Grant W. Montgomery ◽  
...  

AbstractThe non-cancerous gynecological diseases, endometriosis, polycystic ovary syndrome (PCOS) and uterine fibroids, have been proposed as endometrial cancer risk factors; however, disentangling their relationships is complicated due to their shared risk factors and comorbidity. Using genome-wide association study (GWAS) summary data, we have explored the relationship between these non-cancerous gynecological diseases and endometrial cancer risk, assessing genetic correlations, causal relationships and shared genetic risk regions. Firstly, we found significant genetic correlation between endometrial cancer and PCOS (rG = 0.36, se = 0.12, P = 1.6×10−3), and uterine fibroids (rG = 0.24, se = 0.09, P = 5.4×10−3). Adjustment for genetically predicted body mass index (BMI; a risk factor for PCOS, uterine fibroids and endometrial cancer) substantially attenuated the genetic correlation between endometrial cancer and PCOS, but not uterine fibroids. Despite the observed genetic correlation, genetic causal inference tests (latent causal variable and Mendelian randomization analyses) did not support a causal relationship between any of the non-cancerous gynecological diseases and endometrial cancer. Gene-based association analysis revealed four shared endometriosis and endometrial cancer risk loci (9p21.3, 15q15.1, 17q21.32 and 3q21.3) and two shared uterine fibroid and endometrial cancer risk loci (5p15.33 and 11p13). In summary, we have shown that PCOS and uterine fibroids are genetically correlated with endometrial cancer, although the genetic architecture shared between endometrial cancer and PCOS likely relates to BMI. Furthermore, shared genetic risk regions, and thus potentially shared causal genes, were identified between the risk for endometrial cancer and endometriosis, and uterine fibroids.


Author(s):  
Jaya Umate ◽  
Soudamini Chaudhari

Uterine fibroids are the commonest benign tumor of the uterus and also the commonest benign solid tumor in the female. It can cause significant morbidity in women of a reproductive life span. The exact cause of uterine fibroid is unknown. Prevalence of uterine fibroid 5 -20 % of women in the reproductive age group. It can cause significant morbidity in women of a reproductive life span. Not all fibroids cause symptoms. 50% of women are asymptomatic. Fibroids mainly cause symptoms like menorrhagia, dysmenorrhea and cause pressure symptoms on adjacent viscera i. e. bladder, uterus, rectum which affects the everyday activities of women. In Ayurveda all gynecological disease explained under the term yonivyapad. It can be explained as the anatomical and functional abnormalities of the female reproductive system. In Ayurveda granthi can be correlated with the uterine fibroid. In modern science uterine fibroid treats medically, surgically. But it is challenging to establish a satisfactory conservatory medical treatment to date. so in Ayurveda the main purpose is the management of granthi by samprapti vighatan by use of medicine.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e17564-e17564
Author(s):  
Tatiana I. Moiseenko ◽  
Elena M. Frantsiyants ◽  
Valeria A. Bandovkina ◽  
Meri L. Adamyan ◽  
Natalia D. Cheryarina ◽  
...  

e17564 Background: Local imbalance of sex steroids (SS) plays a leading role in the development of gynecologic tumors. The purpose of the study was to investigate the effect of changes in SS and E6 protein levels on the course of endometrial cancer (EC). Methods: 50 patients with EC T1-2N0M0 (histologically - endometrioid adenocarcinoma, AC), aged 53.4±3.2 years, were recruited. Levels of SS and E6 protein were determined by standard ELISA systems in tumor samples. The coefficient of estrogens to the amount of testosterone and progesterone – C = (E1+E2):(T+P4) was calculated. Intact endometrium (IE) obtained in surgical treatment for uterine fibroids was used as the intact tissue. Results: AC patients demonstrated elevated estrone (E1) levels, compared to IE: by 2.2 times in 88% and by 5.9 times in 12% cases (p < 0.05). Levels of estradiol (E2) were similar in AC and IE. Progesterone (P4) levels in 32 patients were 1.5 times lower than in IE, and testosterone (T) 1.5 times higher (p < 0.05). P4 in 18 patients was 3 times lower than in IE, and T – 1.4 times lower in 12 women and 2.2 times lower in 6 women (p < 0.05). The C coefficient increased in 32 patients by 1.3 times (p< 0.05), in 12 patients by 2.7 times, in 6 patients by 8.2 times (p < 0.05). E6 protein was found in tumor tissue of 18 patients with elevated C. 6 of 18 women with C = 24.54±2.4 and E6 = 420±32 ng/g of tissue developed recurrence during 6 months, and 12 patients with C = 8.15±1.2 and E6 = 28±2.1 ng/g of tissue developed recurrence in a period of 6 months to 1 year. Women with C = 4.04±0.39 without E6 oncoprotein in tumor tissue had a relapse-free period for more than 1 year. Conclusions: An analysis of C and E6 oncoprotein in tumor tissues allows identification of high-risk patients and a personalized approach to adequate treatment.


PLoS ONE ◽  
2019 ◽  
Vol 14 (8) ◽  
pp. e0220929 ◽  
Author(s):  
Madison R. Bishop ◽  
Anna L. W. Huskey ◽  
John Hetzel ◽  
Nancy D. Merner

2016 ◽  
Vol 25 (11) ◽  
pp. 1503-1510 ◽  
Author(s):  
Jodie N. Painter ◽  
Tracy A. O'Mara ◽  
Louise Marquart ◽  
Penelope M. Webb ◽  
John Attia ◽  
...  

2019 ◽  
Author(s):  
S Timmerman ◽  
A-S Van Rompuy ◽  
T Van Gorp ◽  
I Vanden Bempt ◽  
H Brems ◽  
...  

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