scholarly journals Transmission of X-linked Ovarian Cancer: Characterization and Implications

Diagnostics ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 90
Author(s):  
John Lewis Etter ◽  
Kirsten Moysich ◽  
Shaun Kohli ◽  
Shashikant Lele ◽  
Kunle Odunsi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
X Chromosome ◽  
Risk Allele ◽  
Significant Proportion ◽  
Distinct Pattern ◽  
Future Studies ◽  
Independent Locus ◽  
Familial Ovarian Cancer ◽  
Novel Target ◽  
Allele Transmission

We recently reported evidence that a strong, BRCA-independent locus on the X-chromosome may contribute to ovarian cancer predisposition in families ascertained from the Familial Ovarian Cancer Registry (Buffalo, NY, USA). While it has been estimated that approximately 20% of all ovarian cancer cases are hereditary, it is possible that a significant proportion of cases previously believed to be sporadic may, in fact, be X-linked. Such X-linked disease has a distinct pattern; it implies that a father will necessarily pass a risk allele to each of his daughters, increasing the prevalence of cancers clustered within a family. X-chromosome inactivation further influences the expression of X-linked alleles and may represent a novel target for screening and therapy. Herein, we review the current literature regarding X-linked ovarian cancer and interpret allele transmission-based models to characterize X-linked ovarian cancer and develop a framework for clinical and epidemiological familial ascertainment to inform the design of future studies.

The Tubal Fimbria Is a Preferred Site for Early Adenocarcinoma in Women With Familial Ovarian Cancer Syndrome

2006 ◽  
Vol 30 (2) ◽  
pp. 230-236 ◽  
Author(s):  
Fabiola Medeiros ◽  
Michael G Muto ◽  
Yonghee Lee ◽  
Julia A Elvin ◽  
Michael J Callahan ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Syndrome ◽  
Familial Ovarian Cancer ◽  
Early Adenocarcinoma

scholarly journals Variants in the Signaling Protein TSAd are Associated with Susceptibility to Ovarian Cancer in BRCA1/2 Negative High Risk Families

2012 ◽  
Vol 7 ◽  
pp. BMI.S10815 ◽  
Author(s):  
Ludmila Kaplun ◽  
Aviva Levine Fridman ◽  
Wei Chen ◽  
Nancy K. Levin ◽  
Sidra Ahsan ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Risk ◽  
Allelic Variation ◽  
High Risk Population ◽  
Ovarian Cancer Risk ◽  
Familial Ovarian Cancer ◽  
Cell Growth And Differentiation ◽  
Brca1 Brca2 ◽  
High Risk Families

A substantial fraction of familial ovarian cancer cases cannot be attributed to specific genetic factors. The discovery of additional susceptibility genes will permit a more accurate assessment of hereditary cancer risk and allow for monitoring of predisposed women in order to intervene at the earliest possible stage. We focused on a population with elevated familial breast and ovarian cancer risk. In this study, we identified a SNP rs926103 whose minor allele is associated with predisposition to ovarian but not breast cancer in a Caucasian high-risk population without BRCA1/ BRCA2 mutations. We have found that the allelic variation of rs926103, which alters amino acid 52 of the encoded protein SH2D2A/TSAd, results in differences in the activity of this protein involved in multiple signal transduction pathways, including regulation of immune response, tumor vascularization, cell growth, and differentiation. Our observation provides a novel candidate genetic biomarker of elevated ovarian cancer risk in members of high-risk families without BRCA1/2 mutations, as well as a potential therapeutic target, TSAd.

scholarly journals Transporter Associated with Antigen Processing 1 (TAP1) as a Potential Biomarker for Breast, Lung, Liver and Ovarian Cancer using Health Informatics

2020 ◽  
Author(s):  
Anika Tabassum ◽  
Md. Nazmus Samdani ◽  
Tarak Chandra Dhali ◽  
Rahat Alam ◽  
Foysal Ahammad ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Health Informatics ◽  
Antigen Processing ◽  
Multi Drug Resistance ◽  
P Value ◽  
Mhc I ◽  
Transporter Protein ◽  
Normal Tissues ◽  
Potential Biomarker ◽  
Novel Target

Transporter associated with antigen processing 1 (TAP1) gene codes for a transporter protein, which is responsible for tumor antigen presentation in the MHC I or HLA complex. A defect in the gene results in an inadequate tumor tracking. TAP1 may also influence multi drug resistance, which is an extreme threat in providing treatment by drugs which are chemotherapeutic. The gene of TAP1 was analyzed bioinformatically. It gave us prognostic data as a confirmation of whether it should be used as a biomarker. The expression level and pattern analysis were conducted using ONCOMINE, GENT2 and GEPIA2 online platforms. Samples with different clinical outcomes were investigated for expression and promoter methylation analysis was done in cancer vs normal tissues using UALCAN. The copy number alteration and mutation frequency and expression in different cancer studies were analyzed using cBioPortal. The PrognoScan and KM plotter survival analysis of significant data (p-value<0.05) was representing graphically. Pathway and Gene ontology analysis of gene correlated to TAP1 gene was presented using bar charts. After arranging the data in a single panel and correlating expression to prognosis, understanding mutational and alterations and comparing pathways, TAP1 may be a potential novel target to evade a threat against chemotherapy and the study gives new aspects to consider for immunotherapy in human breast, lung, liver and ovarian cancer.

Catalysts to withdrawal from familial ovarian cancer screening for surgery and reactions to discontinued screening: a qualitative study

2012 ◽  
Vol 12 (1) ◽  
pp. 19-26 ◽  
Author(s):  
Kate J. Lifford ◽  
Alison Clements ◽  
Lindsay Fraser ◽  
Deborah Lancastle ◽  
Kate Brain
Keyword(s):  
Ovarian Cancer ◽  
Cancer Screening ◽  
Qualitative Study ◽  
Ovarian Cancer Screening ◽  
Familial Ovarian Cancer

scholarly journals FSCN1 Promotes Epithelial-Mesenchymal Transition Through Increasing Snail1 in Ovarian Cancer Cells

2018 ◽  
Vol 49 (5) ◽  
pp. 1766-1777 ◽  
Author(s):  
Jie Li ◽  
Songlin Zhang ◽  
Meili Pei ◽  
Lei Wu ◽  
Yanli Liu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Cells ◽  
Cancer Progression ◽  
Epithelial Mesenchymal Transition ◽  
Ovarian Cancer Cell ◽  
Ovarian Cancer Cells ◽  
Transwell Assay ◽  
Mesenchymal Transition ◽  
Novel Target ◽  
Snail1 Expression

Background/Aims: Epithelial-mesenchymal transition (EMT) is one of the key mechanisms mediating cancer progression. Snail1 has a pivotal role in the regulation of EMT, involving the loss of E-cadherin and concomitant upregulation of vimentin, among other biomarkers. We have found FSCN1 promoted EMT in ovarian cancer cells, but the precise mechanism of FSCN1 in EMT process has not been clearly elucidated. Methods: The levels of FSCN1 and snail1 were determined in epithelial ovarian cancer(EOC) specimen and in ovarian cancer cells by RT-qPCR. The changes of EMT makers and effects on snail1 by FSCN1 were examined by overexpression or depletion of FSCN1 in EOC cells by RT-qPCR and western blotting. The invasiveness of the FSCN1-modified EOC cells was examined in transwell assay. Co-immunoprecipitation (IP) was performed to detect the interaction between snail1 and FSCN1 in EOC cells. Results: We found FSCN1 and snail1 significantly increased in EOC, and especially in EOC with metastasis. FSCN1 was positively correlated with snail1 expression at the cellular/histological levels. Moreover, we further showed that FSCN1 physiologically interacted with and increased the levels of snail1 to promote ovarian cancer cell EMT. Conclusion: FSCN1 promote EMT through snail1 in ovarian cancer cells. FSCN1 is an attractive novel target for inhibiting invasion and metastasis of EOC cells.

scholarly journals SPHK1 Is a Novel Target of Metformin in Ovarian Cancer

2019 ◽  
Vol 17 (4) ◽  
pp. 870-881 ◽  
Author(s):  
Peter C. Hart ◽  
Tatsuyuki Chiyoda ◽  
Xiaojing Liu ◽  
Melanie Weigert ◽  
Marion Curtis ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Novel Target
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