Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 27 for “"BRCA1/2"”.
-
Risk Reduction Decision Making in Women with BRCA1/2 Gene Mutations
… testing for gene mutations, a new population of BRCA1/2 women is becoming aware of their increased risk for developing breast and/or ovarian cancer. A salient issue these women face is which risk-reducing option to choose. Little is known about the decision making factors underlying the choice of …
-
Breast Cancer Risk For Female Relatives of Male Breast Cancer Patients With Negative Brca1/2 Testing
… cancer in the context of uninformative <em>BRCA1 </em>and <em>BRCA2 </em>testing. This information may aid in the process of risk assessments for patients and their families following uninformative germline genetic testing.</p> <p>A retrospective chart review was performed to compare the …
-
Identifying Pathogenic Variants In Hereditary Cancer Syndrome Genes Via Tumor Molecular Profiling
… with pathogenic variants (PVs) identified in <em>BRCA1 </em>and <em>BRCA2 </em>(<em>BRCA1/2</em>) via tumor molecular profiling at The University of Texas MD Anderson Cancer Center, then performed a retrospective chart review to determine the proportion of such patients that received germline …
-
The Impact of Genetic Testing in Women with a Diagnosis and Family History of Breast Cancer: A Qualitative Investigation of Patient Experience
… Today efficient, affordable and available early BRCA1/2 screening techniques are now feasible and can provide results to inform treatment. However BRCA1/2 testing, undertaken close to cancer diagnosis, can represent an added burden for patients during a highly stressful time. This study aimed to …
-
Genetic Counselors' Approaches to Direct-To-Consumer Genetic Testing For Hereditary Breast Cancer
… DTC-GT results or TPI data that reported a <em>BRCA1/2 </em>pathogenic variant. We recruited 80 GCs specializing in hereditary cancer and administered a survey that assessed their testing strategy for probands from three hypothetical case scenarios with variable personal and family histories of …
-
Identificación del perfil mutacional en los genes BRCA1 y BRCA2 en pacientes con cancer de mama y de ovario familiar en población Afrocolombiana
… debido a los dos genes más importantes que son BRCA1 y BRCA2. La contribución de estos dos genes al cáncer de mama o de ovario hereditario en población colombiana ha sido evaluada mediante dos estudios preliminares realizados en población blanca/mestiza. Las diferencias en la frecuencia y el …
-
Spectrum and Incidence of Primary and Therapy-Related Hematologic Malignancies In Individuals With Brca1 and Brca2 Pathogenic Variants
… Preliminary evidence suggests that germline <em>BRCA1</em> and <em>BRCA2</em> pathogenic and likely pathogenic (P/LP) variants may increase susceptibility to t-MNs due to the genes’ established role in DNA damage response. There is also evidence that individuals with <em>BRCA1/2</em> P/LP …
-
Evaluating The Nccn Clinical Criteria For Hereditary Breast and Ovarian Cancer Syndrome Genetic Testing
… (HBOC) syndrome predisposes females with a <em>BRCA1</em> or <em>BRCA2</em> mutation to an up to 85% lifetime risk for breast cancer and an up to 40% lifetime risk for ovarian cancer. It is crucial for individuals with HBOC to be identified to allow for proper screening, management, and …
-
Factors Associated With Early Versus Late Development of Breast and Ovarian Cancer In Brca1 and Brca2 Positive Women
… cancer (HBOC) is caused by a mutation in the BRCA1 or BRCA2 genes. Women with a BRCA1/2 mutation are at increased risks for breast and ovarian cancer and often develop cancer at an earlier age than the general population. However, some women with a BRCA1/2 mutation do not develop breast or …
-
UNRAVELING THE MOLECULAR MECHANISM OF BRCA2-POLTETA INTERPLAY IN PREVENTING SSDNA GAP ACCUMULATION DURING DNA REPLICATION
… synthetic lethal relationship between POLQ and BRCA1/2 has been well-established, but the underlying molecular mechanisms remain poorly understood. Here, we investigate the role of POLθ beyond alt-NHEJ and its interplay with BRCA2 during DNA replication. We find that BRCA2-deficient cells …
-
Role of C-Met and Egfr In Acquired Resistance to Parp Inhibitors In Triple-Negative Breast Cancer
… breast cancer) in patients with a germline <em>BRCA1/2</em> mutation. Despite impressive response rates of ~60%, the prolongation in median progression-free survival with PARP inhibitors is modest, suggesting the emergence of resistance. We previously demonstrated that c-MET contributes to …
-
Γενετική ανάλυση στον κληρονομικό καρκίνο του μαστού
… μεταλλάξεων στα υψηλής διεισδυτικότητας γονίδια BRCA1 και BRCA2. Προκειμένου να μελετήσουμε την συνεισφορά των γονιδίων BRCA1 και BRCA2 στην εμφάνιση καρκίνου μαστού στον ελληνικό πληθυσμό εξετάστηκαν 200 άτομα που παρουσίαζαν σημαντικό ατομικό ή/και οικογενειακό ιστορικό καρκίνου του μαστού …
-
Krūties vėžio magnetinio rezonanso vaizdo tekstūros analizė /
… in the detection of breast cancer linked to BRCA1 and BRCA2 gene mutations and to identify precise radiomic features that could develop new non-invasive breast cancer diagnostic approaches, oriented at genetics. Methods: A prospective analysis of MRI radiomic features and genetic data from 42 …
-
Risk Perception Among BRCA1 and BRCA2 Mutation Negative Patients
… individual cancer risk. Testing negative for BRCA1 and BRCA2 mutations does not completely eliminate the heritable component of cancer, nor does it eliminate the risk to relatives of affected women. This increased risk may be difficult for patients to comprehend and explain to family members. …
-
CRISPR/Cas9 screenings and in silico investigations nominate low-frequency alterations in DNA repair genes as biomarkers for castration-resistant prostate cancers.
… of patients’ enrolment criteria. Only 50% of BRCA1/2-deficient patients (TRITON2 trial) respond to therapy, variable antitumor activity is observed for the covered non-BRCA DNA repair gene (DRG) aberrations, and the duration of the treatment response is highly heterogeneous among responders. …
-
Consequences of telomerase inhibition and telomere dysfunction in BRCA1 mutant cancer cells
… An increasing body of evidence suggests BRCA1, a tumor suppressor gene with a variety of functions including DNA repair and cell cycle regulation, plays a role in telomere maintenance. Mutations in BRCA1 account for approximately half of all hereditary breast and ovarian cancers, and the …
-
RAD51-MEDIATED ABASIC SITES PROTECTION PREVENTS REPLICATION FORK COLLAPSE.
… some BER proteins are synthetically lethal with BRCA1/2, which are frequently mutated in several type of cancers, including ovarian and breast cancer. In this study, we utilized the Xenopus laevis egg extract-based in vitro DNA replication system and transmission electron microscopy (TEM) to …
-
Saying ‘No’: A biographical analysis of the experiences of women with a genetic predisposition to developing breast/ovarian cancer who reject risk reducing surgery
… 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 high risk populations. Despite this, some BRCA1/2 mutation-positive women say no to RRS. …
-
The Role of Luteal Phase Fallopian Tube Epithelium in High-grade Ovarian Serous Carcinoma
… of prophylactic salpingectomy specimens from BRCA1/2 mutation carriers, at risk for tubal and ovarian high-grade serous carcinoma (SerCa), have consistently revealed occult carcinomas and putative histological cancer precursors in the distal fallopian tube epithelium (FTE), supporting the FTE …
-
Poly (Adp) Ribose Polymerase Inhibitors For The Treatment of Malignant Peripheral Nerve Sheath Tumor
… DNA repair, specifically those with <em>BRCA1/2</em> (breast cancer, early onset 1/2)<em> </em>mutations. Further evaluation of these inhibitors has shown multiple mechanisms of sensitivity, all of which are associated with the DNA damage response and DNA repair. While no specific defects …
Page 1 of 2