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Showing 1 to 20 of 25 for “"Hereditary cancer"”.
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Managing Variant Discrepancy In Hereditary Cancer: Clinical Practice, Barriers, and Desired Resources
… barriers to counseling a variant discrepancy in hereditary cancer genetic testing. This investigation was unique because it was the first to address variant discrepancies from a clinical point of view. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. …
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Identifying Pathogenic Variants In Hereditary Cancer Syndrome Genes Via Tumor Molecular Profiling
… profiling is often performed in order to direct cancer treatment options. However, because many of the genes analyzed on tumor molecular profiling overlap with genes known to be associated in the germline with hereditary cancer predisposition syndromes, tumor molecular profiling can unknowingly …
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ONCOGENETIC AND DECISION MAKING PROCESS. MEN¿S ADHERENCE TO CASCADE SCREENING FOR HEREDITARY CANCER SYNDROMES.
… developing breast, ovarian, prostate, pancreatic cancer, and melanoma. Clinical guidelines advocate for the use of cascade screening (CS) to increase the identification rates of at-risk family members and advance genetically targeted disease prevention. However, despite the benefits of CS, testing …
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Outcomes of Genetic Testing In A Genitourinary Genetics Clinic
<p>Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these …
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Genetic Counselors' Approaches to Direct-To-Consumer Genetic Testing For Hereditary Breast Cancer
… for their results. The National Comprehensive Cancer Network recommends clinical-grade genetic testing to confirm commercial results; however, the type of testing that GCs select remains uncharacterized. Therefore, we aimed to describe the specific recommendations that cancer GCs make for …
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The Psychosocial Effects of The Li-Fraumeni Education and Early Detection (Lead) Program On Indivdiuals With Li-Fraumeni Syndrome
<p>Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome that leads to an increased risk of multiple cancers. In the past five years new screening protocols have been developed that provide improved screening options for individuals with LFS. However, very little has been published on the …
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Investigation of the genetic basis of multiple primary renal tumours
… 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 …
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Attitudes and Practices of Genetic Counselors In Providing Predictive Testing to Minors At Risk For Li-Fraumeni Syndrome
… Syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome caused by mutations in the <em>TP53</em> gene that predisposes individuals to a wide variety of cancers, including breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, and adrenocortical carcinomas. …
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Characteristics of Individuals Undergoing Panel Genetic Testing For Primary Brain Tumors
… of uncertain significance (VUS) cohorts based on cancer-panel genetic test results among patients with a PBT.</p> <p>Methods. Subjects were referred for multi-gene panel testing between March 2012 and June 2016. Clinical data were ascertained from test requisition forms. The incidence of …
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Communication In Family Members With A Rare APC Mutation
… polyposis (FAP), an autosomal dominant cancer predisposition syndrome which has a lifetime risk of colon cancer of almost 100%. Identifying a genetic mutation can provide important health information to families. Family communication about genetic testing has been studied before in other …
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Mismatch Repair Deficient Tumors Lacking Known Sporadic Causes: Are They All Due to Lynch Syndrome?
… (MMRD) colorectal (CRC) or endometrial (EC) cancers in the absence of <em>MLH1 </em>promoter hypermethylation and <em>BRAF</em> mutations are suggestive of Lynch syndrome (LS). Positive germline genetic test results confirm LS. It is unclear if individuals with MMRD tumors but no identified …
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Impact of Personal, Familial, and Socioeconomic Factors On The Return of Remotely Collected Samples For Genetic Testing
… information on 326 individuals who consented to hereditary cancer genetic testing and were sent a saliva collection kit for remote sample collection. The overall rate of saliva kit return was 84.3%. Non-White patients were less likely to return saliva kits at both hospital systems, and patients …
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Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing In Evaluation For Lynch Syndrome
<p>Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (<em>MLH1</em>, <em>MSH2/EPCAM</em>, <em>MSH6</em>, <em>PMS2</em>) are diagnosed with LS …
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Attitudes of Parents At Risk of Inheriting Li-Fraumeni Syndrome to wards Predictive Genetic Testing In Their Minor-Aged Children.
Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome which predisposes individuals to cancer beginning in childhood. These risks are spread across a lifetime, from early childhood to adulthood. Mutations in the p53 tumor suppressor gene are known to cause the majority of cases of LFS. The …
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Attitudes About Predictive Men1 Genetic Testing In Minors
… Endocrine Neoplasia type 1 (MEN1) is a hereditary cancer syndrome characterized by tumors of the endocrine system. Tumors most commonly develop in the parathyroid glands, pituitary gland, and the gastro-entero pancreatic tract. MEN1 is a highly penetrant condition and age of onset is …
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Evaluation of Current Clinical Criteria For Li-Fraumeni Syndrome In A Diverse Sample of Tp53 Mutation Carriers
<p>Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome caused by heterozyogous germline mutations in the <em>TP53 </em>gene and characterized by an excess of early-onset cancers, high lifetime risk of cancer, and a wide range of tumor types. Recent studies suggesting a benefit …
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Presymptomatic Testing For Familial Cancer Syndromes In Young Adults: Considerations, Decision Making And Impact
… Aim: To explore presymptomatic testing for hereditary cancer in consultands aged 18-30 years with particular reference to psychosocial impact, the decision-making process and the consequent counselling needs. Methods: A mixed-methods sequential exploratory design was used, comprising a …
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Mechanisms of Synthetic Lethality in Renal Cell Carcinoma
… (ccRCC), the most common subtype of kidney cancer, is characterised by biallelic inactivation of the von Hippel-Lindau (*VHL*) tumour suppressor gene, and inherited loss-of-heterozygosity of *VHL* underlies the eponymous hereditary cancer syndrome. The *VHL* protein product, pVHL, is the …
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Mutation Carriers' Perspectives on Lynch Syndrome; self-concept and lived experiences.
Lynch syndrome is a hereditary cancer syndrome that predisposes to several types of cancer, including colorectal cancer, endometrial cancer and ovarian cancer. Genetic testing for Lynch syndrome has been available since the mid-1990’s, which implies that an increasing number of individuals live …
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Prevalence of gynaecological disease in women with an HMLH1 mutation in the Northern Cape province: Survey of a population with Lynch Syndrome in South Africa
Objective: Lynch syndrome, previously called hereditary non-polyposis colorectal cancer (HNPCC), is one of the most common hereditary cancer syndromes with an association with gynaecological cancers. Members of affected families have an increased risk for colon cancer as well as extra colonic …
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