Abstract:
BACKGROUND:It is estimated that more than 20% of ovarian cancer cases are associated with a genetic predisposition that is only partially explained by germline mutations in the BRCA1 and BRCA2 genes. Recently, several pieces of evidence showed that mutations in three genes involved in the homologous recombination DNA repair pathway, i.e., BRIP1, RAD51C, and RAD51D, are associated with a high risk of ovarian cancer. To more precisely estimate the ovarian cancer risk attributed to BRIP1, RAD51C, and RAD51D mutations, we performed a meta-analysis based on a comparison of a total of ~ 29,400 ovarian cancer patients from 63 studies and a total of ~ 116,000 controls from the gnomAD database. RESULTS:The analysis allowed precise estimation of ovarian cancer risks attributed to mutations in BRIP1, RAD51C, and RAD51D, confirming that all three genes are ovarian cancer high-risk genes (odds ratio (OR) = 4.94, 95%CIs:4.07-6.00, p < 0.0001; OR = 5.59, 95%CIs:4.42-7.07, p < 0.0001; and OR = 6.94, 95%CIs:5.10-9.44, p < 0.0001, respectively). In the present report, we show, for the first time, a mutation-specific risk analysis associated with distinct, recurrent, mutations in the genes. CONCLUSIONS:The meta-analysis provides evidence supporting the pathogenicity of BRIP1, RAD51C, and RAD51D mutations in relation to ovarian cancer. The level of ovarian cancer risk conferred by these mutations is relatively high, indicating that after BRCA1 and BRCA2, the BRIP1, RAD51C, and RAD51D genes are the most important ovarian cancer risk genes, cumulatively contributing to ~ 2% of ovarian cancer cases. The inclusion of the genes into routine diagnostic tests may influence both the prevention and the potential treatment of ovarian cancer.
journal_name
J Ovarian Resjournal_title
Journal of ovarian researchauthors
Suszynska M,Ratajska M,Kozlowski Pdoi
10.1186/s13048-020-00654-3subject
Has Abstractpub_date
2020-05-02 00:00:00pages
50issue
1issn
1757-2215pii
10.1186/s13048-020-00654-3journal_volume
13pub_type
杂志文章,meta分析abstract:BACKGROUND:To investigate dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) for assessing histopathological and molecular biological features in induced rat epithelial ovarian carcinomas (EOCs). METHODS:7,12-dimethylbenz[A]anthracene (DMBA) was applied to induce EOCs in situ in 46 SD rats. Conventional MR...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-017-0362-z
更新日期:2017-09-26 00:00:00
abstract:OBJECTIVES:Endometrioid carcinoma of the ovary is one of the most types of epithelial ovarian cancer associated to endometrioisis. Endometrioid tumors as well as endometriotic implants are characterized by the presence of epithelial cells, stromal cells, or a combination of booth, that resemble the endometrial cells, s...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-3-3
更新日期:2010-01-28 00:00:00
abstract:BACKGROUND:The mechanisms regulating the function and regression of the corpus luteum (CL) have not yet been elucidated in detail. The regressed CL of cows was previously reported to be filled with unusual vessels like arteriovenous anastomosis (AVA); however how these vessels are being established during luteolysis re...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-016-0277-0
更新日期:2016-10-19 00:00:00
abstract:BACKGROUND:Hypertensive disorders of pregnancy are the most common causes of adverse maternal & perinatal outcomes. Such investigations in resource limited settings would help to have great design strategies in preventing maternal and perinatal morbidity and mortality. AIM:To determine management outcome and factor as...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-015-0135-5
更新日期:2015-03-15 00:00:00
abstract:UNLABELLED: BACKGROUND:Women with polycystic ovary syndrome (PCOS) have higher risk for cardiovascular disease (CVD). Heart type fatty acid binding protein (HFABP) has been found to be predictive for myocardial ischemia.Wet ested whether HFABP is the predictor for CVD in PCOS patients, who have an increased risk of ca...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-5-45
更新日期:2012-12-18 00:00:00
abstract:BACKGROUND:Mucinous carcinomas from different organs are morphologically similar and might share similarities at the molecular and biochemical levels that may illuminate their pathogenesis and influence management. The factors involved in the pathogenesis of mucinous carcinomas remain unknown; which is likely one contr...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-015-0169-8
更新日期:2015-06-17 00:00:00
abstract:BACKGROUND:Ovarian hyperstimulation syndrome (OHSS) is a rare, yet severe, iatrogenic complication of ovulation induction therapy during assisted reproductive procedures. Our group previously detected atypical cells in the ascitic fluid of OHSS patients, although no malignancy developed during follow up. Here, the aim ...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-020-00624-9
更新日期:2020-03-05 00:00:00
abstract::As the human ovarian follicle enlarges in the course of a regular cycle or following controlled ovarian stimulation, the changes in its structure reveal the oocyte environment composed of cumulus oophorus cells and the follicular fluid (FF).In contrast to the dynamic nature of cells, the fluid compartment appears as a...
journal_title:Journal of ovarian research
pub_type: 杂志文章,评审
doi:10.1186/s13048-017-0342-3
更新日期:2017-07-12 00:00:00
abstract:OBJECTIVE:Recently, 14-3-3 zeta protein was identified as a potential serum biomarker of epithelial ovarian cancer (EOC). The goal of this study was to investigate the clinical potential of 14-3-3 zeta protein for monitoring EOC progression compared with CA-125 and HE4. DESIGN:Prospective follow-up study. SETTING:Uni...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-6-79
更新日期:2013-11-15 00:00:00
abstract:BACKGROUND:The value of this report is the identification of late recurrence with an extremely unusual combination of malignant transformation. In particular, the retroconversion of immature to mature teratoma as well as a somatic-type malignant transformation were both observed postchemotherapeutically in our case. C...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-018-0476-y
更新日期:2019-01-10 00:00:00
abstract:BACKGROUND:Cell lines are very useful for both clinical and basic research. The establishment of ovarian, malignant tumor cell lines with aggressive histology is especially important. We describe the establishment and characterization of a new human clear cell carcinoma cell line of the ovary. RESULTS:The cell line HC...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-016-0242-y
更新日期:2016-06-04 00:00:00
abstract:BACKGROUND:Epithelial ovarian cancer has the highest fatality rate of all gynecologic malignancies. Although the majority of patients achieve complete clinical response after initial cytoreductive surgery and platinum-based chemotherapy, most recur and almost all will eventually acquire platinum-resistance for which tr...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-019-0506-4
更新日期:2019-04-25 00:00:00
abstract:BACKGROUND:This study aimed to identify the clinical and pathological characteristics and the possible prognostic factors for Chinese patients with early-stage ovarian endometrioid carcinoma. METHODS:The present study reviewed the medical records of patients who received initial treatment and a postoperative pathologi...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-017-0361-0
更新日期:2017-09-18 00:00:00
abstract:BACKGROUND:Ovarian thecoma-fibroma groups (OTFG) are uncommon sex cord-stromal neoplasms. The objective of the study was to demonstrate clinical and sonographic features of OTFG and compare with surgical histopathology. METHODS:A total of 61 patients with surgically proven OTFG were enrolled in this retrospective stud...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-016-0291-2
更新日期:2016-11-22 00:00:00
abstract:BACKGROUND:This study was aimed to explore the role of long noncoding RNA C17orf91 and its potential mechanisms in ovarian cancer development. RESULTS:To assess its role in ovarian cancer, microarray datasets (GSE14407, GSE30587, and GSE17260) in Gene Expression Omnibus (GEO) were utilized to assess the expression and...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-016-0258-3
更新日期:2016-08-17 00:00:00
abstract:BACKGROUND:This study evaluated the influence of menstrual cycle length, menstrual cycle variability and predicted luteal phase length on the success of vitrified-warmed blastocyst transfer in natural menstrual cycle using progesterone for luteal phase supplementation. METHODS:Consecutive women undergoing vitrified-wa...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-018-0436-6
更新日期:2018-08-02 00:00:00
abstract:BACKGROUND:Pelvic irradiation is essential for improving survival in women with pelvic malignancies despite inducing permanent ovarian damage. Ovarian transposition can be performed in premenopausal women in an attempt to preserve ovarian function. As uncertainty occurs over the proportion of women who are likely to be...
journal_title:Journal of ovarian research
pub_type: 杂志文章,meta分析,评审
doi:10.1186/1757-2215-7-69
更新日期:2014-06-25 00:00:00
abstract:BACKGROUND:Ovarian cancer (OVC) is the deadliest of all gynecologic cancers, primarily as a consequence of asymptomatic progression. The complex nature of OVC creates challenges for early detection, and there is a lack of specific and sensitive biomarkers suitable for screening and detecting early stage OVC. METHODS:P...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-016-0228-9
更新日期:2016-03-31 00:00:00
abstract:BACKGROUND:Although agonistic autoantibodies against type-1 angiotensin-II receptor (AT1-AA) are frequently detected in women with preeclampsia, the clinical significance of AT1-AA in association with epithelial ovarian cancer (EOC) has not been identified. METHODS:In an attempt to clarify this issue, we measured seru...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-6-22
更新日期:2013-04-05 00:00:00
abstract:INTRODUCTION:The use of patient reported outcome measures (PROMs) has increased during the past decade, and the focus on how to use them has resulted in a more proactive application. Studies have shown that proactive use of PROMs during treatment improves patient-clinician communication, leads to better symptom managem...
journal_title:Journal of ovarian research
pub_type: 杂志文章,评审
doi:10.1186/s13048-019-0538-9
更新日期:2019-07-15 00:00:00
abstract:BACKGROUND:Our recent study on a panel of human ovarian cancer cells revealed that SKOV-3 cells barely express the Sprouty isoform 1 (Spry1) while 1A9 cells maintain it at a level similar to normal ovarian cells. Here we investigated the functional outcomes of induced alterations in the expression of Spry1 in the two c...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-7-61
更新日期:2014-06-08 00:00:00
abstract:BACKGROUND:The ST6Gal-I glycosyltransferase, which adds α2-6-linked sialic acids to N-glycosylated proteins is upregulated in a wide range of malignancies including ovarian cancer. Prior studies have shown that ST6Gal-I-mediated sialylation of select surface receptors remodels intracellular signaling to impart cancer s...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-019-0574-5
更新日期:2019-10-14 00:00:00
abstract:BACKGROUND:Recent studies have shown that microRNAs may regulate the ABCB1 gene (ATP-binding cassette, sub-family B [MDR/TAP], member 1). Computational programs have predicted that the 3'-untranslated region (3'-UTR) of ABCB1 contains a potential miRNA-binding site for miR-186. Here, we investigated the role of miR-186...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-015-0207-6
更新日期:2015-12-02 00:00:00
abstract:BACKGROUND:Because higher survival of follicles during the freezing/thawing procedure improves the quality of cryopreserved tissue reimplanted after oncological therapies, defining an optimal method for human ovarian tissue cryopreservation remains a major issue in this field. One option to improve the cryopreservation...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-016-0268-1
更新日期:2016-09-26 00:00:00
abstract:RATIONALE AND OBJECTIVES:To evaluate the impact of metabolic parameters in the peritoneal cavity on the likelihood of achieving complete tumor debulking in patients with ovarian and peritoneal cancers. MATERIALS AND METHODS:Forty-nine patients with ovarian and peritoneal cancers were included, who underwent pre-operat...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-020-00662-3
更新日期:2020-05-20 00:00:00
abstract::Both estrogens and androgens are involved in the development and normal functioning of the ovaries. It is also known that ovarian function is regulated by diet. The goal of this study was to estimate the expression of sex hormone receptors in ovaries of mice that were on a 9-month caloric restriction (alternate-day fe...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/s13048-015-0185-8
更新日期:2015-08-13 00:00:00
abstract:OBJECTIVES:The ovarian tumor marker CA125 is expressed on human MUC16, a cell surface bound mucin that is also shed by proteolytic cleavage. Human MUC16 is overexpressed by ovarian cancer cells. MUC16 facilitates the binding of ovarian tumor cells to mesothelial cells lining the peritoneal cavity. Additionally, MUC16 a...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-2-8
更新日期:2009-06-18 00:00:00
abstract:BACKGROUND:The objective of this study was to build the transcriptomic profile of granulosa cells originating from follicles 6 to 9 mm in diameter in dairy cattle using microarrays. METHODS:Granulosa cells originating from three different phases of antral follicle growth were compared: growing (G), plateau (P) and atr...
journal_title:Journal of ovarian research
pub_type: 杂志文章
doi:10.1186/1757-2215-7-50
更新日期:2014-05-07 00:00:00
abstract:BACKGROUND:The down-regulation of E-cadherin gene (CDH1) expression has been regarded as an important event in cancer invasion and metastasis. However, the association between CDH1 promoter methylation and ovarian cancer remains unclear. A meta-analysis was conducted to evaluate the potential role of CDH1 promoter meth...
journal_title:Journal of ovarian research
pub_type: 杂志文章,meta分析
doi:10.1186/s13048-016-0231-1
更新日期:2016-04-11 00:00:00
abstract::The original article [1] contains errors in Fig. 3C, Results and Discussion. ...
journal_title:Journal of ovarian research
pub_type: 杂志文章,已发布勘误
doi:10.1186/s13048-020-00628-5
更新日期:2020-03-13 00:00:00