Genomic Instability Study on the Japanese Familial Ovarian Cancer without Germline Mutation of BRCA1 or BRCA2 by Loss of Heterozygosity Analysis

2002 ◽  
Vol 28 (1) ◽  
pp. 35-36
Author(s):  
Ikunosuke Tsuneki
Keyword(s):  
Ovarian Cancer ◽  
Genomic Instability ◽  
Loss Of Heterozygosity ◽  
Germline Mutation ◽  
Familial Ovarian Cancer

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.

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 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.

Loss of heterozygosity among short-term ovarian cancer survivors with germline mutations

2019 ◽  
Vol 154 ◽  
pp. 79
Author(s):  
J. Fehniger ◽  
F. Dao ◽  
N. Olvera ◽  
D. Gerber ◽  
D.A. Levine
Keyword(s):  
Ovarian Cancer ◽  
Cancer Survivors ◽  
Loss Of Heterozygosity ◽  
Germline Mutations ◽  
Short Term

scholarly journals Global DNA Hypomethylation in Epithelial Ovarian Cancer: Passive Demethylation and Association with Genomic Instability

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 764 ◽  
Author(s):  
Wa Zhang ◽  
David Klinkebiel ◽  
Carter J. Barger ◽  
Sanjit Pandey ◽  
Chittibabu Guda ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Epithelial Ovarian Cancer ◽  
Genomic Instability ◽  
Human Cancer ◽  
Disease Free Survival ◽  
Gene Expression Signature ◽  
Dna Methyltransferases ◽  
Dna Demethylation ◽  
Dna Hypomethylation ◽  
Proliferation Markers

A hallmark of human cancer is global DNA hypomethylation (GDHO), but the mechanisms accounting for this defect and its pathological consequences have not been investigated in human epithelial ovarian cancer (EOC). In EOC, GDHO was associated with advanced disease and reduced overall and disease-free survival. GDHO (+) EOC tumors displayed a proliferative gene expression signature, including FOXM1 and CCNE1 overexpression. Furthermore, DNA hypomethylation in these tumors was enriched within genomic blocks (hypomethylated blocks) that overlapped late-replicating regions, lamina-associated domains, PRC2 binding sites, and the H3K27me3 histone mark. Increased proliferation coupled with hypomethylated blocks at late-replicating regions suggests a passive hypomethylation mechanism. This hypothesis was further supported by our observation that cytosine DNA methyltransferases (DNMTs) and UHRF1 showed significantly reduced expression in GDHO (+) EOC after normalization to canonical proliferation markers, including MKI67. Finally, GDHO (+) EOC tumors had elevated chromosomal instability (CIN), and copy number alterations (CNA) were enriched at the DNA hypomethylated blocks. Together, these findings implicate a passive DNA demethylation mechanism in ovarian cancer that is associated with genomic instability and poor prognosis.

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