A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

Mortlock, Sally; Fuente, Rosario Corona de la; Kho, Pik Fang; Pharoah, Paul D.P.; Seo, Ji-Heui; Freedman, Matthew L.; Gayther, Simon A.; Siedhoff, Matthew T.; Rogers, Peter A. W.; Leuchter, Ronald S.; Walsh, Christine; Cass, Ilana; Karlan, Beth Y.; Rimel, B.J.; Montgomery, Grant W.; Lawrenson, Kate; Kar, Siddhartha

doi:10.1016/j.xcrm.2022.100542

Cited by 36 publications

(58 citation statements)

References 89 publications

(200 reference statements)

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“…When comparing such literature data with the results of this study, a match was found only for the lncRNAs TP53TG1, LINC01320, and LINC00320 [45][46][47][48]. Other lncRNAs retrieved in the present analysis have been associated with an increased risk of endometriosis or X chromosome instability during early embryonic development [49][50][51][52][53]. Among them, the lncRNA TP53TG1 was predicted to align with the nucleotide sequences of both syncytin-1 and syncytin-2 with scores of 140 (ID: 89.4%) and 51.9 (ID: 92.1%), respectively.…”

Section: Discussionsupporting

confidence: 64%

Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus

Talotta

2023

IJMS

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Background: Patients with systemic lupus erythematosus (SLE) often suffer from obstetric complications not necessarily associated with the antiphospholipid syndrome. These events may potentially result from the reduced placental synthesis of the fusogenic proteins syncytin-1 and syncytin-2, observed in women with pregnancy-related disorders. SLE patients have an aberrant noncoding (nc)RNA signature that may in turn dysregulate the expression of syncytin-1 and syncytin-2 during placentation. The aim of this research is to computationally evaluate and characterize the interaction between syncytin-1 and syncytin-2 genes and human ncRNAs and to discuss the potential implications for SLE pregnancy adverse outcomes. Methods: The FASTA sequences of the syncytin-1 and syncytin-2 genes were used as inputs to the Ensembl.org library to find any alignments with human ncRNA genes and their transcripts, which were characterized for their tissue expression, regulatory activity on adjacent genes, biological pathways, and potential association with human disease. Results: BLASTN analysis revealed a total of 100 hits with human long ncRNAs (lncRNAs) for the syncytin-1 and syncytin-2 genes, with median alignment scores of 151 and 66.7, respectively. Only lncRNAs TP53TG1, TTTY14, and ENSG00000273328 were reported to be expressed in placental tissue. Dysregulated expression of lncRNAs TP53TG1, LINC01239, and LINC01320 found in this analysis has previously been described in SLE patients as well as in women with a high-risk pregnancy. In addition, some of the genes adjacent to lncRNAs aligned with syncytin-1 or syncytin-2 in a regulatory region might increase the risk of pregnancy complications or SLE. Conclusions: This is the first computational study showing alignments between syncytin-1 and syncytin-2 genes and human lncRNAs. Whether this mechanism affects syncytiotrophoblast morphogenesis in SLE females is unknown and requires further investigation.

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Section: Discussionsupporting

confidence: 64%

Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus

Talotta

2023

IJMS

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“…Ovarian cancer might not occur as a result of malignant transformation of glandular epithelial cells but might be caused by eutopic endometrial glandular epithelial cells with sufficient oncogenic mutations that are refluxed to engraft in the ovary [ 1 ]: those endometrial cysts may be considered to be “cancer from the beginning” [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

“…Endometriosis is a benign condition, but it shares features with cancer, including metastatic-like behavior, tissue invasion, proliferation, angiogenesis, and decreased apoptosis. Epidemiologic studies have identified that women with endometriosis have an increased risk of ovarian cancer [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

History of Endometriosis Is Independently Associated with an Increased Risk of Ovarian Cancer

Sarría‐Santamera

Khamitova

Gusmanov

et al. 2022

JPM

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Background: Endometriosis is a complex gynecologic disorder that has been associated with a higher risk of ovarian cancer. The purpose of this work is to determine to what extent a history of endometriosis is a risk factor for ovarian cancer in a Spanish population. Methods: A retrospective case–control study was conducted using de-identified data from the Spanish National Health System’s “Primary Care Clinical Database” and “Hospital Minimum Basic Data Set” for the period 2013–2017. Multiple logistics regression analysis was conducted to determine associations between ovarian cancer and endometriosis controlled by sociodemographic characteristics and comorbidities. Results: Data from 608,980 women were analyzed, with 4505 presenting ovarian cancer. Endometriosis patients were shown to have a 2.66-fold increased risk of ovarian cancer when compared to those who did not have endometriosis by controlling age and other relevant comorbidities. Conclusions: This case–control study based on clinical administrative data has found that a history of endometriosis is independently associated with an increased risk of ovarian cancer. More research is needed to determine if a history of endometriosis affects survival results in ovarian cancer patients.

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“…The first inspect common alleles associated with different histotypes of epithelial ovarian cancer, pooling data from multiple genome-wide genotyping projects or utilizing the Mendelian randomization methodology to look for germline genetic variants as proxies for causal effects of risk factors [ 55 , 56 ]. The second assesses the association between endometriosis and ovarian cancer as a distinct disease [ 57 , 58 ], while the third explores the link between endometriosis and specific histotypes of ovarian cancer [ 59 , 60 ]. Each strategy adds value and is complementary to the others.…”

Section: What Is the Pathogenesis Of Eaoc?mentioning

confidence: 99%

“…Just recently, a strong genetic relationship between endometriosis and epithelial ovarian cancers was reported employing state-of-the-art methods, including genetic correlation, Mendelian randomization, bivariate genome-wide association studies, colocalization, and functional genomic analyses [ 60 ]. The data explored included 14,949 cases/190,715 controls for endometriosis and 25,509 cases/40,941 controls for ovarian epithelial carcinoma.…”

Section: What Is the Pathogenesis Of Eaoc?mentioning

confidence: 99%

Endometriosis-Associated Ovarian Cancer: What Are the Implications for Women with Intact Endometrioma Planning for a Future Pregnancy? A Reproductive Clinical Outlook

Younis

2022

Biomolecules

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Endometriosis is a chronic, universal, and prevalent disease estimated to affect up to 1:10 women of reproductive age. Endometriosis-associated ovarian cancer (EAOC) developing at reproductive age is challenging and of concern for women and practitioners alike. This outlook review focuses on the occurrence of EAOC, especially in infertile women or those planning for a future pregnancy, from the perspective of a reproductive endocrinologist, based on recent evidence. Contemporary pathogenesis, genetic profiles, evidence of causality, clinical diagnosis, prognosis, and up-to-date management are discussed. EAOC seems to be merely associated with endometrioma and includes clear-cell and endometrioid ovarian carcinoma. Although endometrioma is frequently found in women of reproductive age (up to 1:18 of women), EAOC appears to be a rare occurrence. These women are of more advanced reproductive age, nulliparous, and hyperestrogenic, with a large-sized unilateral endometrioma (>9 cm) containing solid components and papillary projections. Each case suspected to have EAOC has specific characteristics, and a multidisciplinary discussion and appropriate patient counseling should be conducted to reach an optimal therapeutic plan. Since most of these cases are diagnosed at an early stage with a favorable prognosis, fertility-sparing surgery may be feasible. The pros and cons of fertility preservation techniques should be discussed.

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A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

Cited by 36 publications

References 89 publications

Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus

Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus

History of Endometriosis Is Independently Associated with an Increased Risk of Ovarian Cancer

Endometriosis-Associated Ovarian Cancer: What Are the Implications for Women with Intact Endometrioma Planning for a Future Pregnancy? A Reproductive Clinical Outlook

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