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Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.

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Showing 1 to 20 of 35 for “"Cancer susceptibility"”.

  1. Rare Genetic Variants and Cancer Susceptibility

    Senior, NaomiUniversity of Cambridge2024

    Genetic susceptibility to breast cancer is known to be conferred by common variants, identified through GWAS, together with some rarer variants conferring higher disease risks. The latter, identified through genetic linkage or targeted sequencing studies, includes protein-truncating variants and …

    cambridge Repository record

  2. DNA testing for cancer susceptibility : the needs of Maori

    Port, Ramari Viola (Waiora)ResearchSpace@Auckland2007

    An inherited predisposition to cancer may result from constitutional mutations in a number of tumour suppressor genes. Knowledge of the specific mutations with a family which render the individuals susceptible to bowel, breast or stomach cancer facilitates genetic testing. Genetic testing is a …

    auckland-ms Repository record

  3. BMP Signaling Regulates Germ Cell Pluripotency, Sexual Differentiation, and Cancer Susceptibility

    Sanchez, Angelica2019

    … cell pluripotency, sexual differentiation and cancer susceptibility. A recent GWAS study [3] identified association of BMP7 with testicular dysgenesis syndrome; however the molecular mechanisms behind this association remain unknown. Previously, we described the development of testicular germ …

    utswmed Repository record

  4. Role of inherited DNA repair deficiencies in cancer susceptibility and evolution

    Sherwood, KittyThe University of Edinburgh2025

    … is associated with the heritability of multiple cancer syndromes. I explored the role of inherited DNA repair deficiencies in cancer predisposition, progression and evolution. Using whole genome sequencing from family trios and a carefully curated variant calling pipeline, my results support the …

    edinburgh Repository record

  5. Insights into determinants of cancer susceptibility, initiation, and progression:studies on medulloblastoma and Histiocytic Sarcoma in mouse models

    Been, Raha Allaei2012

    … of both perigestational dietary influence on cancer predisposition as well as somatic genetic determinants of cancer development. Both projects used genetically engineered mouse models of cancer. The introductory chapter gives a brief historical introduction to cancer, background information …

    umn Repository record

  6. Functional interpretation of cancer-associated genetic variants

    Zhang, YiUniversity of Illinois at Urbana-Champaign2019

    … genetic variants that may significantly modulate cancer susceptibility. However, the precise molecular mechanisms behind these associations remain largely uncharacterized, creating barriers to understanding the biological processes behind oncogenesis. This thesis presents an integrated …

    uiuc Repository record

  7. Family and tumour studies in breast and oesophageal cancer

    Kelsell, David PeterThe Open University1997

    This study focussed on two areas in the field of cancer susceptibility. The initial area was the genetic analysis of a recently mapped breast cancer susceptibility locus, BRCAl, in a number of breast and breast-ovarian cancer families. In the largest of the ICRF families studied (BOV3), linkage to …

    the-open-u Repository record

  8. Disease susceptibility and phenotypic adaptations as seen through the lens of comparative functional genomics

    Daunesse, MaëlleUniversity of Cambridge2024

    … basis of phenotypic diversity and disease susceptibility. In mammals, trait evolution and disease mechanisms are largely driven by changes in gene expression and their regulation. These changes often result from sequence variations within the genome, which can affect gene function and …

    cambridge Repository record

  9. Saying ‘No’: A biographical analysis of the experiences of women with a genetic predisposition to developing breast/ovarian cancer who reject risk reducing surgery

    Molloy, DoreenEdith Cowan University, Research Online, Perth, Western Australia2015

    … have identified some of the genes implicated in cancer susceptibility. Women with mutations in breast/ovarian cancer-susceptibility genes (BRCA1 and 2) have a lifetime combined risk of breast/ovarian cancer of more than 80%. Risk reducing surgery (RRS) reduces cancer risk by as much as 90% in …

    edithcowan Repository record

  10. Identification and Characterization of Novel Kinases that Regulate BRCA1 Expression and Function

    Wang, WenjiaUniversity of Kansas2010

    … and functional regulation of the breast cancer susceptibility gene 1 (BRCA1) in the pathogenesis of sporadic breast cancers is poorly understood. We developed a functional assay, which assesses the ability of BRCA1 to localize to sites of DNA damage and form ionizing radiation-induced …

    ku Repository record

  11. Psychological and Sociodemographic Predictors of Psychological Distress in BRCA1 and BRCA2 Genetic Testing Participants within a Community Based Genetic Screening Program

    Lesniak, KarenUniversity of North Texas2000

    … in BRCA1 and BRCA2, the first two breast cancer susceptibility genes identified, carry as much as an 85% lifetime risk of developing breast, ovarian or other cancers. Genetic testing for mutations in these two genes has recently become commercially available. There have been varying …

    unt Repository record

  12. Molecular and genetic characterisation of contralateral breast cancer (CBC): opportunities for personalised surgery

    McIlmunn, ColinQueen's University Belfast2021

    … between primary and contralateral breast cancers (CBCs). Additionally, given the known risk factors for CBC development of young age at primary diagnosis and significant family history, the genetic predisposition of the CBC cohort was assessed.<br/><br/>Firstly, the population of women in …

    qu-belfast Repository record

  13. Investigation of the genetic basis of multiple primary renal tumours

    Zhang, HuairenUniversity of Cambridge2025

    … risk factor for an underlying predisposition to cancer. Renal cell carcinoma (RCC) occurs in several hereditary cancer disorders syndromes and RCC-related MPT comprise individuals with multiple primary renal tumours (MPRT) and those with RCC plus a non-renal tumour (MPT:RCC+X). Excluding rare …

    cambridge Repository record

  14. Towards an integrated understanding of low-dose chemical exposures in the development of human cancer

    Lowe, Leroy, Martin, FrankLancaster University2015

    … factors can play a role in an individual’s cancer susceptibility, and lifestyle-related factors have been a primary focus of our prevention efforts for several decades. However, advances in our understanding of cancer causation have resulted in additional concerns being raised about …

    lancaster Repository record

  15. Tunable Microchips for Imaging Protein Structures formed in Breast Cancer Cells

    Alden, Nicholas AndrewVirginia Tech2018

    The breast cancer susceptibility protein, BRCA1, is a tumor suppressor that helps maintain genomic integrity. Changes in BRCA1 that effect DNA repair processes can fuel cancer induction. The Kelly lab, at the Virginia Tech Carilion Research Institute, has recently developed a new methodology that …

    vt Repository record

  16. Circadian modulation of the estrogen receptor alpha transcription

    Villa, Linda MoniqueVirginia Tech2012

    … number of disorders (e.g. jet lag, insomnia, and cancer). Period 2 (Per2), a circadian protein, is at the center of the clock's function. The loss or deregulation of per2 has been shown to be common in several types of cancer including breast and ovarian [1, 2]. Epidemiological studies established …

    vt Repository record

  17. A Mutation in Alk6b Causes Impaired Germ Cell Differentation and Testicular Germ Cell Tumors in Zebrafish

    Neumann, Joanie2010

    … GCT during a forward genetic screen to identify cancer susceptibility loci. Homozygous adult males develop tumors consisting of undifferentiated spermatogonia by 4 months of age while heterozygous males develop tumors around 7 to 9 months of age. We used interval haplotype analysis and …

    utswmed Repository record

  18. Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases

    Catucci, IreneThe Open University2013

    … responsible for approximately 30- 35% of breast cancer familial clustering, leaving the majority of them unexplained. In addition, the variability of the risk conferred by <i>BRCA1</i> and <i>BRCA2</i> mutations suggests the presence of genetic modifiers of this risk. Therefore, the …

    the-open-u Repository record

  19. DISCOVERY OF NOVEL EPIGENETIC MECHANISMS OF CARCINOGENESIS BY GENOME-WIDE PROFILING OF NON-CODING REGULATORY ELEMENTS

    Akhtar-Zaidi, BatoolCase Western Reserve University School of Graduate Studies2013

    … mechanisms are of paramount importance in cancer. Historically, epigenetic studies of cancer have focused on aberrant DNA methylation events. Far less is known about the role of histone modifications in epigenetic mechanisms of human cancers, and of disease in general. There are a number of …

    ohiolink Repository record

  20. Molecular Epidemiology of Breast Cancer

    Harlid, SophiaLund University2011

    Hereditary breast cancer constitutes a considerable fraction of the total number of breast cancer cases occurring each year. Up until recently very few breast cancer predisposing genes were known, but many new common polymorphisms contributing to increased cancer susceptibility are continuously …

    lund Repository record

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