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Book Identification of Genes and Pathways Involved in Familial Ovarian Cancer

Download or read book Identification of Genes and Pathways Involved in Familial Ovarian Cancer written by Kelly Kai Yin Seto and published by . This book was released on 2011 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Identification of Genes and Potential Pathways Involved in Familial Ovarian Cancer

Download or read book Identification of Genes and Potential Pathways Involved in Familial Ovarian Cancer written by Kelly Kai Yin Seto and published by . This book was released on 2011 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the most important risk factors in ovarian cancer is family history, and two well-studied tumour suppressor genes BRCA1 and BRCA2 have already been identified in "high-risk" families. However, alterations of other genes may also be important for ovarian cancer pathogenesis in individuals with family history of breast/ovarian cancer.Additionally, I observed that expression levels of PRKCZ are higher in ovarian tumours from patients with strong family history compared to patients with weak family history. PRKCZ has previously been shown to be involved in a variety of cellular processes; however its role in ovarian cancer remained elusive. To further understand the role of PRKCZ in ovarian tumourigenesis, including cell viability, cell migration, as well as relevant downstream signaling pathways, I performed functional assays using an in vitro ovarian cancer model. I observed that PRKCZ increases proliferation of the SKOV3 ovarian cancer cell line and participates in EGF-induced chemotaxis. Furthermore, I identified IGF1R (insulin-like growth factor 1 receptor) and ITGB3 (integrin beta 3) as downstream effectors of PRKCZ as expression of these genes is significantly altered when PRKCZ is over-expressed. Given their previously identified associations with familial ovarian cancer, the IGF1 and ITGB3 signaling pathways may therefore represent a possible link between PRKCZ and this disease.In this thesis, I compared the gene expression profiles of tumours from patients with strong and weak family history of breast and/or ovarian cancer to identify genes that may be significant in the subset of patients with ovarian cancer predisposition. Based on this comparison, two genes of interest were selected for further investigations: hCDC4/FBXW7 (F-box and WD repeat domain containing 7) and PRKCZ (protein kinase C zeta).Through mutational analyses I identified one nucleotide alteration within exon 7 of hCDC4; however, overall I found that hCDC4 mutation is a rare event in ovarian tumours. Additional epigenetics analyses revealed that promoter methylation is not a significant mechanism responsible for repression of hCDC4 expression in ovarian cancer. Nevertheless, the variable expression of hCDC4 proteins observed in ovarian tumour tissues by immunohistochemical staining of tissue microarrays suggests that hCDC4 deregulation may potentially be important in a subset of ovarian cancers.

Book Diagnosis and Management of Ovarian Disorders

Download or read book Diagnosis and Management of Ovarian Disorders written by Albert Altchek and published by Elsevier. This book was released on 2003-09-04 with total page 595 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated second edition of Diagnosis and Management of Ovarian Disorders provides thorough, yet succinct insight into the ever-changing realm of ovarian disorders. It presents a novel multidisciplinary approach to the subject as described by clinicians, surgeons, pathologists, basic scientists and related medical researchers. Topics covered include reproductive technology, early diagnosis of ovarian cancer, and management of menopause among others. The breadth of information provided by this book will appeal to clinicians and researchers involved in the study and treatment of ovarian disorders. KEY FEATURES* Includes updated information on early diagnosis of ovarian cancer* Reviews new diagnostic techniques for ovarian disorders* Discusses latest information on reproductive technology* Presents translational treatment linking laboratory research with clinical medicine

Book Gene environment Interactions in Immunosuppression Pathway and Risk of Ovarian Cancer

Download or read book Gene environment Interactions in Immunosuppression Pathway and Risk of Ovarian Cancer written by Shalaka Sudhir Hampras and published by . This book was released on 2013 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Background: Ovarian cancer is the leading cause of death due to gynecological cancers in developed countries. Despite aggressive surgery and chemotherapy, the overall prognosis of ovarian cancer is poor, with most patients developing recurrent disease after front-line treatment. Lack of specific symptoms and lack of effective screening tests preclude attempts to detect the disease at an early stage. Tumor immunosuppression is thought to play an important role in ovarian carcinogenesis. However the precise role of immunosuppression in the etiology of ovarian cancer is not well established. Ovarian cancer escapes attack by the host immune system by various mechanisms including induction of regulatory T cells (Treg cells) and myeloid derived suppressor cells (MDSCs). Single Nucleotide Polymorphisms (SNPs) that affect the levels or functions of Treg cells and MDSCs can provide more insight into molecular pathways underlying immunosuppression in ovarian cancer. SNPs are robust biomarkers representing a constitutional exposure that is not affected by the disease process, unlike measured levels of Treg cells/MDSCs in blood, tumor or peritoneal cavity samples. Further, the association of SNPs in immunosuppression pathway may be modified by environmental factors such as obesity, smoking and endometriosis, all of which have been shown to be associated with altered host immune response. Objective: The objectives of this study were 1) To evaluate the association of SNPs in Treg cell pathway with ovarian cancer, 2) To evaluate the association of SNPs in MDSC pathway with ovarian cancer, 3) To evaluate the association of gene-environment interactions in Treg cell genetic pathway with ovarian cancer and 4) To evaluate the association of gene-environment interactions in the MDSC genetic pathway with ovarian cancer.^Methods: A total of 17,421 ovarian cancer cases and 25,878 controls, frequency matched on age, race or geographic area, were pooled from 43 studies (34 case-control and 9 case only) conducted in North America, Europe and Australia, participating in the Ovarian Cancer Association Consortium (OCAC). Data on demographic characteristics, reproductive history, medical and drug history, clinical characteristics and family history were collected through interviewer administered or self-administered comprehensive questionnaires. Peripheral blood or buccal samples were collected for genotyping at two centralized facilities: Genome Quebec in Canada (N=25,782) and at the Mayo Clinic in USA (N=18,707). A total of 2,133 Tag SNPs in 54 genes that are associated with the function of Treg cells and MDSCs were genotyped on a custom Illumina iSelect array designed for the Collaborative Oncological Gene-environment Study (COGS). A combination of principal component analyses, multivariate logistic regression and stratified analyses was used to analyze interaction of SNPs with body mass index (BMI), smoking and endometriosis. Results: SNPs in IL12B (rs6894567, OR=1. 06, 95% CI=1. 02-1. 10) in Treg pathway and IRF8 (rs305084, OR=1. 08, 95% CI=1. 03-1. 14) in MDSC pathway were found to have the strongest association with overall ovarian cancer, after adjusting for age and principal components of population substructure. A SNP in TGFBR2 (rs3773636) was associated with 21% increased risk of clear cell cancer (OR=1. 21, 95% CI=1. 1-1. 33). Variant alleles at a non-synonymous coding SNP (rs25882) located in CSF2 gene was associated with increased risk (OR=1. 20, 95%CI=1. 01-1. 42) of clear cell cancer among women with low or normal BMI and a reduced (OR=0. 43, 95%CI=0. 23-0. 82) risk among women with high BMI (P for interaction=0. 01). Among women with BMI>24. 99kg/m2, SNPs in TGF-beta signaling pathway were associated with a higher risk of serous (rs2450926 in TGFBR3, OR=1. 407, 95% CI=1. 07-1. 84, P for interaction=0. 03), mucinous (rs12490899 in TGFBR2, OR=2. 59, CI=1. 49-4. 50, P for interaction=0. 005) and endometrioid (rs3917158 in TGFB3, OR=1. 60, 95% CI=1. 12-2. 29, P for interaction=0. 03) cancer. A SNP rs1077667 (TNFSF14) showed qualitative interaction with smoking (P for interaction=0. 0002), with a 38% increased risk (OR=1. 38, 95% CI=1. 13-1. 68) of mucinous cancer among non-smokers and a 40% reduced risk (OR=0. 60, 95% CI=0. 42-0. 85) among women exposed to less than or equal to 14. 25 pack-years of smoking. Variant alleles at non-synonymous coding SNPs, rs2250889 (MMP9) and rs35602605 (EIF2AK4), were associated with 78% increased risk (P for interaction=0. 008) and 25% reduced risk (P for interaction=0. 009) of low malignant potential (LMP) tumors among smokers with>14. 25 pack-years of exposure, respectively. Non-synonymous coding SNP rs652438 in MMP12 also showed significant interaction (P for interaction=0. 0004) with endometriosis in association with LMP tumors (OR=2. 14, 95% CI=1. 24-3. 70, among women with endometriosis). A SNP in ARG1 (rs17657829, OR=1. 39, CI=1. 08-1. 77, P for interaction=0. 004) was associated increased risk of overall ovarian cancer among women with history of endometriosis. Conclusion: SNPs in immunosuppression pathway interact with BMI, smoking and endometriosis. These interactions vary by histological subtypes indicating different genes within this pathway drive the etiopathogenesis of various subtypes. This study has identified key genetic targets in the Treg cell and MDSC pathway for evaluation of etiology of ovarian cancer. The findings are valuable in identifying subgroups of women exposed to certain lifestyle and pathological conditions, at high risk of ovarian cancer. Further research including genotype-phenotype correlation studies should be conducted to evaluate the functional significance of these SNPs.

Book Multi Omics Approaches to Study Signaling Pathways

Download or read book Multi Omics Approaches to Study Signaling Pathways written by Jyoti Sharma and published by Frontiers Media SA. This book was released on 2020-11-18 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Book Holland Frei Cancer Medicine

Download or read book Holland Frei Cancer Medicine written by Robert C. Bast, Jr. and published by John Wiley & Sons. This book was released on 2017-03-10 with total page 2004 pages. Available in PDF, EPUB and Kindle. Book excerpt: Holland-Frei Cancer Medicine, Ninth Edition, offers a balanced view of the most current knowledge of cancer science and clinical oncology practice. This all-new edition is the consummate reference source for medical oncologists, radiation oncologists, internists, surgical oncologists, and others who treat cancer patients. A translational perspective throughout, integrating cancer biology with cancer management providing an in depth understanding of the disease An emphasis on multidisciplinary, research-driven patient care to improve outcomes and optimal use of all appropriate therapies Cutting-edge coverage of personalized cancer care, including molecular diagnostics and therapeutics Concise, readable, clinically relevant text with algorithms, guidelines and insight into the use of both conventional and novel drugs Includes free access to the Wiley Digital Edition providing search across the book, the full reference list with web links, illustrations and photographs, and post-publication updates

Book Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Linked to BRCA1

Download or read book Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Linked to BRCA1 written by Susan L. Neuhausen and published by . This book was released on 1997 with total page 14 pages. Available in PDF, EPUB and Kindle. Book excerpt: We have continued to screen for BRCA2 mutations in our high-risk breast cancer kindreds and now have identified 10 deleterious mutations, 5 missense mutations of unknown significance and 3 polymorphisms. Our collaborator has screened an additional 150 families and identified 8 deleterious mutations and 1 missense mutation of unknown significance. There are an additional five families which are clearly linked to BRCA2 for which no mutations have been identified. We have begun to examine cases in those families for large deletions and/or rearrangements by probing Southern blots with 14 probes spaced within BRCA2.

Book Clinical Gynecology

    Book Details:
  • Author : Eric J. Bieber
  • Publisher : Cambridge University Press
  • Release : 2015-04-23
  • ISBN : 1107040396
  • Pages : 1127 pages

Download or read book Clinical Gynecology written by Eric J. Bieber and published by Cambridge University Press. This book was released on 2015-04-23 with total page 1127 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written with the busy practice in mind, this book delivers clinically focused, evidence-based gynecology guidance in a quick-reference format. It explores etiology, screening, tests, diagnosis, and treatment for a full range of gynecologic health issues. The coverage includes the full range of gynecologic malignancies, reproductive endocrinology and infertility, infectious diseases, urogynecologic problems, gynecologic concerns in children and adolescents, and surgical interventions including minimally invasive surgical procedures. Information is easy to find and absorb owing to the extensive use of full-color diagrams, algorithms, and illustrations. The new edition has been expanded to include aspects of gynecology important in international and resource-poor settings.

Book Cancer and the Environment

    Book Details:
  • Author : Institute of Medicine
  • Publisher : National Academies Press
  • Release : 2002-08-01
  • ISBN : 0309169240
  • Pages : 160 pages

Download or read book Cancer and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2002-08-01 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Roundtable on Environmental Health Sciences, Research, and Medicine wanted to address the link between environmental factors and the development of cancer in light of recent advances in genomics. They asked what research tools are needed, how new scientific information can be applied in a timely manner to reduce the burden of cancer, and how this can be flexible enough to treat the individual.

Book Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1

Download or read book Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1 written by and published by . This book was released on 1999 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: A family history of breast cancer is a major risk factor for developing breast cancer, with estimates that up to 10% of breast cancer is due to a genetic predisposition. The original objective of this grant was to localize BRCA2. At the time the grant was funded, we had localized BRCA2, so we modified the aims to isolate BRCA2. Our collaborator on this grant, Dr. Stratton, isolated BRCA2 at the end of 1995. The aims were modified to characterize BRCA2, including identifying mutations in high-risk breast cancer families, identifying BRCA2 mutation carriers, investigating mutation origin of recurrent mutations, examining age-specific penetrance and risks of other cancers, and exploring other factors which may modulate risks of developing cancer in BRCA2 mutation carriers.

Book Oncofertility

    Book Details:
  • Author : Teresa Woodruff
  • Publisher : Springer
  • Release : 2012-11-06
  • ISBN : 9781461426592
  • Pages : 522 pages

Download or read book Oncofertility written by Teresa Woodruff and published by Springer. This book was released on 2012-11-06 with total page 522 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oncofertility has emerged as a way to address potential lost or impaired fertility in cancer patients and survivors, with active biomedical research that is developing new ways to help these individuals preserve their ability to have biological children. In order to move beyond oncofertility as a science and medical technology and begin to address the ethical, legal, and social ramifications of this emerging field, we must give voice to scholars from the humanities and social sciences to engage in a multidisciplinary discussion. This book brings together a pool of experts from a variety of fields, including communication, economics, ethics, history, law, religion, and sociology, to examine the complex issues raised by recent developments in oncofertility and to offer advice from national and international perspectives as we create new technology. Given the inherent interdisciplinary nature of oncofertility, this book is not only valuable, but also necessary to cultivate a deep understanding of new issues with the eventual aim of offering proposals for addressing them. Indeed, this book will be useful for people not only within the humanities and social sciences disciplines but also for those who are confronted with cancer and the possibility of impaired fertility and the medical practitioners within oncology and reproductive medicine who are at the front lines of this emerging field.

Book Ovarian Cancer

    Book Details:
  • Author : Omer Devaja
  • Publisher : BoD – Books on Demand
  • Release : 2018-10-24
  • ISBN : 1789843332
  • Pages : 366 pages

Download or read book Ovarian Cancer written by Omer Devaja and published by BoD – Books on Demand. This book was released on 2018-10-24 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ovarian cancer management is a rapidly changing field with new treatment agents available as a result of a greater understanding of the pathogenesis of this disease. In addition, both surgical and chemotherapeutic treatment strategies are evolving to maximise response in this disease. This book brings together leading specialists from around the world to discuss and outline a variety of new concepts in ovarian cancer, ranging from molecular biology and genetics through screening to both surgical and chemotherapeutic management.

Book Epigenetic Characterization of Ovarian Cancer

Download or read book Epigenetic Characterization of Ovarian Cancer written by and published by . This book was released on 2008 with total page 105 pages. Available in PDF, EPUB and Kindle. Book excerpt: The overall objective of this research was to identify genes that are aberrantly methylated in epithelial ovarian cancer. Our approach was to treat or mock treat primary normal or tumor cultured cells with drugs that inhibit DNA methyltransferase activity and then perform microarray analysis to identify genes that are likely to exhibit methylation-mediated silencing. We also employed similar analysis of 43 ovarian cell lines. Two major criteria identified genes likely to be methylated: maximum fold-change in expression following drug treatment, and a high standard deviation in expression among untreated cells. These criteria were validated using a gene set known to exhibit methylation in other cancers and led to prediction of a total of 360 methylated genes in ovarian cancer, among which 32 were validated. Genes involved in TGF-beta pathway activity were overrepresented among the candidates, and their methylation status was confirmed. Pathway activity was found to increase when DNA methyltransferase activity is inhibited, indicating coordinate epigenetic suppression of this pathway in ovarian cancer.

Book Genetics of Colorectal Cancer

Download or read book Genetics of Colorectal Cancer written by John D. Potter and published by Springer. This book was released on 2008-12-08 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.

Book Ovarian Cancer Biomarkers

Download or read book Ovarian Cancer Biomarkers written by Khalid El Bairi and published by Springer Nature. This book was released on 2021-10-09 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book comprehensively summarizes the biology, etiology, and pathology of ovarian cancer and explores the role of deep molecular and cellular profiling in the advancement of precision medicine. The initial chapter discusses our current understanding of the origin, development, progression and tumorigenesis of ovarian cancer. In turn, the book highlights the development of resistance, disease occurrence, and poor prognosis that are the hallmarks of ovarian cancer. The book then reviews the role of deep molecular and cellular profiling to overcome challenges that are associated with the treatment of ovarian cancer. It explores the use of genome-wide association analysis to identify genetic variants for the evaluation of ovarian carcinoma risk and prognostic prediction. Lastly, it highlights various diagnostic and prognostic ovarian cancer biomarkers for the development of molecular-targeted therapy.

Book Positive Results

Download or read book Positive Results written by Joi L. Morris and published by Prometheus Books. This book was released on 2010-06-03 with total page 397 pages. Available in PDF, EPUB and Kindle. Book excerpt: This unique and important guidebook is a single, comprehensive source of information and advice to help women (and some men) at high risk for breast and for ovarian cancer because of family history and genetic profile. One part memoir, three parts "how to" manual, Positive Results explains in a clear and steady manner the myths and realities of "the breast cancer genes." It lays out all the options in easy-to-follow, compassionate language. It will help women and men decide if they want to pursue genetic testing, guide them in interpreting their test results, and give them a sound basis for making the life-saving decisions required to manage their risks. Authors Joi Morris and Dr. Ora Karp Gordon cover all of the latest medical options, including genetic testing for breast cancer risk, breast cancer surveillance, assessing risk, mastectomy and breast reconstruction techniques, ovarian cancer surveillance, surgery, managing menopause, and cancer risks in men who carry mutations on BRCA genes. Along the way, Joi tells her personal story and that of other women and men who have made the gut-wrenching decisions required to survive in this world of astronomical risk. At the age of forty-two, Joi learned that she has a genetic mutation on a gene known as BRCA2. The test results meant that her risk of getting breast cancer could be as high as 84 percent by age seventy, and that her risk for ovarian cancer was also high. Compounding her risk was the fact that her mother had developed breast cancer in her forties. After much research and consultation, the result of which is this book, Joi made the difficult decision of undergoing prophylactic mastectomies. This straightforward and practical approach combined with the poignant personal experience of a woman at risk facing these challenging decisions will provide readers with the feeling that they have had the benefit of a long conversation with both a trusted physician and a friend who has just gone through the same uncertainties they are facing.