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Dissertations / Theses on the topic 'BRCA 2'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Song, Yun. "CNS Metastasis Patterns in BRCA1/2 Mutation Associated and Non-BRCA Associated Breast Cancers." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17295883.

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BRCA1 and BRCA2 germline mutations give rise to phenotypically distinct breast cancers (BC): triple negative (TNBC) and hormone positive, respectively. Different BC subtypes are associated with different patterns of metastasis, including propensity for central nervous system (CNS) metastasis. Purpose of this study is to compare BC recurrence patterns and CNS metastasis rate by BRCA mutation status. This retrospective study included 332 women with confirmed BRCA mutation (30 BRCA1, 32 BRCA2, 270 negative) and diagnosed with locally recurrent or metastatic BC. BRCA1 carriers often metastasized

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2

Palfner, Sonja. "Gen-Passagen molekularbiologische und medizinische Praktiken im Umgang mit Brustkrebs-Genen ; Wissen - Technologie - Diagnostik." Bielefeld Transcript, 2008. http://d-nb.info/994330804/04.

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3

Ginolhac, Sophie. "Facteurs génétiques modificateurs du risque de cancer du sein et de l'ovaire chez les femmes porteuses d'une mutation constitutionnelle des gènes BRCA1 ou BRCA 2." Lyon 1, 2003. http://www.theses.fr/2003LYO1T149.

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La 4e de couverture indique : "Les porteuses de mutations germinales des gènes BRCA1 et BRCA2 ont un risque élevé de développer un cancer du sein et également de l'ovaire. Cependant, il existe une grande variabilité du risque tumoral chez ces porteuses qui dépend du gène en cause, de différents facteurs environnementaux, physiologiques et hormonaux mais probablement aussi de facteurs génétiques. Notre étude a eu pour objectif d'identifier certains de ces facteurs génétiques modificateurs afin d'améliorer l'évaluation du risque cancéreux individuel des porteuses de mutation BRCA et donc leur pr

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4

Reilly, Drew D. "The Narratives of Young Women with BRCA 1/2 Gene Mutation: A Qualitative Analysis." ScholarWorks@UNO, 2014. http://scholarworks.uno.edu/td/1910.

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A narrative qualitative research design was used to understand the stories of young women diagnosed with BRCA1 and BRCA 2 genetic mutation. Four participants were selected who met the following criteria: (a) the participant is diagnosed with BRCA1 or BRCA2 genetic mutation, b) is within the age range of 18 to 35, (c) is without a cancer diagnosis, and is (d) not currently pregnant and does not have children. The four participants were interviewed through open-ended inquiry. The participants’ narratives proved both similar and dissimilar. The themes were organized into within-case narratives an

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5

Jansson, Sandra, and Lisa Candell. "Ett liv i förändring - att bära på mutation i BRCA 1- eller BRCA 2-genen: en skildring av kvinnors upplevelser : En litteraturöversikt." Thesis, Uppsala universitet, Institutionen för folkhälso- och vårdvetenskap, 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-396781.

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Bakgrund: Mutation i BRCA-generna innebär kraftigt ökad risk att utveckla bröst- och ovarialcancer. Vetskap om att bära på denna genmutation innebär påfrestningar och psykosociala förändringar hos individen. Sjuksköterskor behöver insikt i hur detta tillstånd påverkar individen för att kunna tillfredsställa vårdbehovet på ett personcentrerat sätt. Syfte: Skildra kvinnors upplevelse av att bära på mutation i gen BRCA 1 eller BRCA 2. Metod: Allmän litteraturstudie med deskriptiv design. Resultatet baserades på tio originalartiklar med kvalitativ ansats från databaserna PubMed och Cinahl. Resulta

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6

Karlsson, Emelie, and Mitereme Saljii. "Kvinnors upplevelser av att leva med genmutation BRCA 1 och/eller BRCA 2 som ger ökad risk för bröst- och ovarialcancer." Thesis, Blekinge Tekniska Högskola, Institutionen för hälsa, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:bth-19100.

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Bakgrund: Kvinnor som är bärare av BRCA 1 och/eller BRCA 2 löper en stor risk att drabbas av bröst- och ovarialcancer under sina unga år. Genmutationen är ingen sjukdom som syns med blotta ögat, trots det lämnar den de drabbade kvinnorna i situationer som är svåra att hantera själv. De ställs inför svåra beslut som rör både fysiska och psykiska aspekter. Därför behöver det undersökas vilka upplevelser kvinnorna har. På så sätt kan sjuksköterskor få en djupare förståelse kring ämnet som hjälper dem att kunna bemöta och vägleda dessa kvinnor på ett bättre sätt. Vilket går hand i hand med att kun

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7

Becker, Mikaela. "Women's Descriptions Six Months Post Notification of Positive BRCA 1/2 Genetic Mutations." Thesis, Capella University, 2017. http://pqdtopen.proquest.com/#viewpdf?dispub=10634312.

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<p> A qualitative case study was used to analyze the experiences of 11 young women, ages 18–35 years diagnosed with breast cancer genetic mutations, BRCA 1 or BRCA 2. The 11 participants did not have a history or current diagnosis of breast or ovarian cancer. There was limited information available within the literature regarding the experiences of young women who have been notified of BRCA 1 and 2 genetic mutations. It seemed vital to understand how women confronted with the difficult reality of their genetic status would like professionals such as psychologists, physicians, and genetic

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8

Rudaitis, Vilius. "BRCA1/2 mutation spectrum and its prognostic significance for progression-free and overall survival in advanced ovarian cancer." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2014~D_20140925_135101-34767.

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In general population 1 of 72 women develop ovarian cancer and to 1 of 95 women this disease is lethal. A great number of clinical trials have shown that the course of the disease is not dependent only on the classical prognostic indicators such as histological tumor type, tumor differentiation, stage of the disease or treatment modalities. More than two decades ago the first publications on heredity factors indicated similarity among the patients diagnosed ovarian malignancies and their first degree relatives. The first genetic autosomal dominant inheritance was determined in the high-risk ca

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9

Lacy, Jessica. "Imaging of PARP1/2-Overexpressing Cancers with Novel AZD2281-Derived Probes." Thesis, Harvard University, 2014. http://etds.lib.harvard.edu/hms/admin/view/58.

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Poly(ADP-ribose)polymerase-1 and -2 (PARP1/2) are nuclear proteins involved in DNA repair. Tumors with defects in homologous recombination, including BRCA1- and BRCA2-deficient cancers, have been shown to be sensitive to PARP inhibition. The Weissleder group has synthesized fluorescent and radioactive derivatives of the PARP1/2 inhibitor AZD2281. We hypothesized that fluorescent and radioactive AZD2281-based imaging agents would quantify PARP1/2 expression in vitro and in vivo. To test this hypothesis, a panel of pancreatic ductal adenocarcinoma and ovarian carcinoma cell lines were

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10

Rudaitis, Vilius. "Išplitusio kiaušidžių vėžio BRCA1/2 genų mutacijų įvairovė ir jų prognozinė reikšmė ligos berecidyviam ir bendrajam pacienčių išgyvenamumui." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2014~D_20140925_135118-11686.

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Bendrojoje populiacijoje 1 iš 72 moterų suserga kiaušidžių vėžiu ir 1 iš 95 moterų miršta nuo šios ligos. Tyrimų duomenys rodo, kad ligos eiga nėra priklausoma vien tik nuo klasikinių prognozinių rodiklių, tokių kaip histologinis naviko tipas, naviko diferenciacija, ligos stadija, taikytas gydymas.Prognozinių veiksnių paieška krypstą link genetinių veiksnių galinčių įtakoti ligos eigą. Literatūros duomenys apie klinikinę BRCA1/2 genų reikšmę yra kontroversiški – nuo visiškai bereikšmio iki ženkliai teigiamo poveikio ligos eigai prognoziniu požiūriu.. Mūsų tyrėjų grupės atlikto tyrimo tikslas

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11

Pack, Jessica K. B. A. "The Impact of the Myriad Direct-to-Consumer Advertising Campaign for BRCA1/2 Genetic Testing in the Greater Cincinnati Area." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1311692006.

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12

Warren, Curtis R. "Linker region of the BRCA2 protein increases chemoresistance to cisplatin: Screen for the characterization of cancer-associated variants." Access to citation, abstract and download form provided by ProQuest Information and Learning Company; downloadable PDF file, 84 p, 2009. http://proquest.umi.com/pqdweb?did=1885607671&sid=3&Fmt=2&clientId=8331&RQT=309&VName=PQD.

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13

Ingleby, Lisa Jayne. "Clinical genetics in a palliative care setting : a qualitative exploration of the barriers and levers staff report when discussing family risk of BRCA 1 and BRCA 2 mutations." Thesis, University of Leicester, 2015. http://hdl.handle.net/2381/35952.

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Palliative care is a term which refers to the services provided to those with incurable, life-limiting illnesses. In addition, the specialism of clinical genetics is increasingly able to identify individuals who are genetically predisposed to illness, particularly Breast Cancer (BRCA) 1 and 2 mutations which increase the chance of developing breast or ovarian cancer. A range of preventative and screening interventions are available. These issues have the potential for psychological consequences for patients at the end of life, their families and for the clinicians raising these issues with the

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14

Claßen, Sven [Verfasser]. "Soziodemographie der Klientel der Tumorrisiko-Sprechstunde für BRCA 1 und BRCA 2 seit der Kostenübernahme durch die Krankenkassen mit einem Rückblick auf die Daten der vorhergehenden Ratsuchenden / Sven Claßen." Kiel : Universitätsbibliothek Kiel, 2016. http://d-nb.info/1120409713/34.

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15

Christopher, Juleen L. "An Examination of Dimensions of Perceived Behavioral Control Regarding Genetic Counseling and Testing for BRCA 1 and BRCA 2 in African-American Women at Moderate to High-Risk for Breast Cancer." Diss., Virginia Tech, 2010. http://hdl.handle.net/10919/77364.

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Breast cancer affects thousands of women each year and among those diagnosed, African-American women (AAW) make up a significant proportion that are diagnosed with early onset disease, have larger tumors, greater lymph node involvement, higher mortality and lower survival rates. Studies examining factors associated with greater breast cancer morbidity and mortality in this group have suggested that they may differ from Caucasian women in terms of certain risk factors for breast cancer; however, other evidence suggests that the risk of developing breast cancer is similar among African-American

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16

PRESNEAU, NADEGE. "Recherche de mutations constitutionnelles dans les genes de predispositions hereditaires aux cancers du sein et/ou de l'ovaire : brca-1, brca-2. recherche de nouveaux genes suppresseurs de tumeur impliques dans l'oncogenese mammaire." Clermont-Ferrand 2, 1999. http://www.theses.fr/1999CLF21122.

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Le gene brca-1 (breast cancer n 1), implique principalement dans une predisposition hereditaire au cancer du sein pre menopausique, localise sur le chromosome 17 en 17q12-21, a ete clone en 1994 par l'equipe de mark skolnik. Un deuxieme gene de predisposition hereditaire au cancer du sein, brca-2, a ete localise en 13q12-13 et clone en 1995. Au total, 52% des familles seraient porteuses d'une mutation brca-1, 35% porteuses d'une mutation brca-2 et 13% des familles liees a d'autres genes. Notre travail de these s'est ainsi inscrit dans un contexte general d'etude des predispositions hereditaire

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17

Castejón, Itey Vanessa. "Mediación del autoconcepto en la adaptación psicológica de mujeres portadoras BRCA1/2." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/664180.

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En mujeres, el tumor más frecuentemente diagnosticado anualmente es el cáncer de mama (CM). Entre un 5%-1o% de los nuevos casos se deben a mutaciones genéticas transmitidas por los progenitores. En estos casos de cáncer hereditario la probabilidad de desarrollar la enfermedad se incrementa notablemente en relación al riesgo poblacional. Una mujer con una alteración patógena en los genes BRCA1/2, a los 80 años, tiene una probabilidad de haber desarrollado un CM hasta del 70%, y, a los 20 años de un primer diagnóstico oncológico, el riesgo de padecer un nuevo CM primario contralateral es del 40

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18

Locke, Imogen. "The evaluation of ductal lavage for risk assessment and early breast cancer detection in BRCA 1/2 gene mutation carriers." Thesis, Institute of Cancer Research (University Of London), 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.510360.

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19

Santana, dos santos Elizabeth. "Contribution of the Missense and Non-Coding BRCA1/2 Variants for the Hereditary Predisposition and Response to Treatment of Breast and Ovarian Cancers Assessment of the Functional Impact of Germline BRCA1/2 Variants Located in Non- Coding Regions in Families with Breast and/or Ovarian Cancer Predisposition Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASS027.

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Les cancers de l'ovaire et du sein sont définis par les principales voies impliquées dans la tumorigénèse. Dans les cancers héréditaires du sein/ovaire (HBOC), les tumeurs présentant des variants pathogènes (PV) de BRCA1/2 présentent une altération de la réparation de l'ADN par recombinaison homologue (RH). Des années après la découverte des gènes BRCA1/2, les PV ont été uniquement recherchés sur l'ADN constitutionnel. Aujourd’hui, cette information est également recherchée au niveau tumoral car en plus de leur utilité pour améliorer le conseil génétique, elle est aussi impliquée dans le choix

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20

White, Railey. "Selection of a Non-Phosphorylated Peptide Inhibitor of BRCA1’s (BRCT)2 Domain." VCU Scholars Compass, 2013. http://scholarscompass.vcu.edu/etd/585.

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A growing body of literature suggests Breast Cancer-Associated Protein 1 (BRCA1) is important not only as a cause, but also as a target in the quest for cancer treatment. BRCA1 deficient cells treated with radiation as well as PARP inhibitors and other chemotherapeutics demonstrate a greater sensitivity than cells with wild type BRCA1. Inhibitors of BRCA1 would take advantage of this synthetic lethality and represent a significant advance in cancer treatment as well as an understanding of the biology of DNA repair. Despite significant study of BRCA1 protein and function, it is a large protein

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21

Al, Abo Muthana. "Compensatory functions and interdependency of the DNA-binding domain of BRCA2 with the BRCA1-PALB2-BRCA2 complex." Kyoto University, 2014. http://hdl.handle.net/2433/188662.

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22

Abdolahad, Sandy, and Frida Bergerling. "När livet händer - Unga kvinnors upplevelser att leva med genmutation BRCA1 eller BRCA2 : En litteraturstudie." Thesis, Högskolan i Borås, Akademin för vård, arbetsliv och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hb:diva-14642.

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Det finns flera olika typer av en bröstcancergen, två av dessa cancergener är BRCA 1 och 2. Dessa cancergener är ärftliga och risken för att utveckla bröst eller livmodercancer blir upp till 80 % när man är bärare redan vid 30 års ålder. Syftet är att beskriva unga kvinnors upplevelser av att leva med genmutation BRCA 1 och/eller BRCA 2. Studien är en litteraturstudie. Dataanalysen mynnade ut i fyra teman känsla av hotad existens, behov av stöd för att hantera information, avsaknad av samhörighet och etiskt dilemma. Resultatet lyfter fram de upplevelser och fruktan som är central för unga kvin

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23

Maguire, Paula. "Investigation of the genetic basis of familial non-BRCA1/2 breast cancer /." Stockholm, 2005. http://diss.kib.ki.se/2006/91-7140-602-6/.

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Wilson, Katherine. "Factors Considered by BRCA1/2 Carriers Regarding Timing of Risk-Reducing Mastectomy." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623165972480045.

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25

Kajula, O. (Outi). "Periytyvän rintasyöpäalttiusmutaation (BRCA1/2) kantajamiesten hypoteettinen perinnöllisyysneuvontamalli." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526218083.

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Abstract The purpose of this study was to develop a hypothetical model of genetic counseling for male hereditary breast cancer mutation (BRCA1/2) carriers. The methodological approach involved mixed methods. The aim of the first phase was to describe male BRCA1/2 mutation carriers’ genetic counseling, experiences and needs for developing genetic counseling. Quantitative data were acquired using a patient counseling questionnaire (n=35) based on consecutive sampling, whereas theme-based interviews (n=31) were conducted as a qualitative approach. In the second phase, the theme-based interview da

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26

Doughty, Courtney R. "Retrospective Comparison of In-person versus Telephone Results Disclosure Counseling for BRCA1/2 Genetic Testing." University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1211940755.

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27

Klappenberger, Stefanie. "Differenzierung von risikomodifizierenden Genen bei BRCA1-2-assoziierten und nicht-BRCA1-2-assoziierten Ovarial- und Mammakarzinomen." kostenfrei, 2008. http://mediatum2.ub.tum.de/doc/635734/635734.pdf.

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28

Jalbert, Lisa-Marie. "Perceptions des bénéfices et des risques des tests génétiques de prédisposition au cancer du sein (BRCA1/2) par les femmes ayant recours à ces tests." Thesis, Université Laval, 2006. http://www.theses.ulaval.ca/2006/23805/23805.pdf.

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29

Larouche, Geneviève. "Le dépistage par mammographie chez les femmes ayant été testées pour les gènes BRCA1/2 : évaluation des méthodes de rapport et comparaison des taux d'utilisation après et avant le test génétique." Doctoral thesis, Université Laval, 2016. http://hdl.handle.net/20.500.11794/27327.

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Cette thèse vise globalement à évaluer l’effet du test BRCA1/2 sur les pratiques de dépistage du cancer du sein en fonction du résultat de ce test génétique. Trois études ont été réalisées afin d’atteindre cet objectif. Les femmes incluses dans ces études ont été testées pour une susceptibilité génétique aux cancers du sein et de l'ovaire dans le cadre du programme de recherche INHERIT BRCAs (INterdisciplinary HEalth Research Team on BReast CAncer susceptibility), mené entre 1998 et 2004. Des données auto-rapportées et des données administratives de la Régie de l’assurance maladie du Québec (R

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Henes, Frank Oliver Gerhard [Verfasser]. "Mutationsanalyse im NBS1-Gen bei Patientinnen mit BRCA1/2 negativem familiären und BRCA1/2 negativem sporadischen Mammakarzinom / Frank Oliver Gerhard Henes." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1023621355/34.

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Ramos, Marcelo Cristiano de Azevedo. "Análise de custo-efetividade de programa para diagnóstico de mutação germinativa em genes BRCA1/2 e de estratégias preventivas para pacientes com câncer de ovário e seus familiares de primeiro grau." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5155/tde-09052018-082903/.

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INTRODUÇÃO: Diversas sociedades profissionais recomendam a realização de testes genéticos para mulheres que desenvolveram câncer de ovário, a fim de identificar portadores de mutação germinativa em genes BRCA1/2 e oferecer terapia redutora de risco. OBJETIVO: O objetivo deste estudo foi realizar análise de custo-efetividade de programa para diagnóstico de mutação germinativa em genes BRCA1/2 e de estratégias preventivas para pacientes com o diagnóstico de câncer de ovário e seus familiares de primeiro grau. METODOLOGIA: O estudo realizou análise de custo-efetividade mediante desenvolvimento de

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BAHOU, MOHAMMED. "Photodissociation de l'ozone et de ses complexes avec des molecules d'halogenes x#2(x#2 = cl#2, br#2, brcl) en matrices." Paris 6, 1997. http://www.theses.fr/1997PA066015.

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Les reactions photochimiques a basse temperature dans un environnement solide sont actuellement d'un tres grand interet et la technique des matrices couplee a la spectroscopie irtf a permis l'etude : - de la photochimie de l'ozone dans des solides par irradiation a 266 nm. En matrice d'argon, on observe essentiellement la recombinaison, de l'oxygene o(#3p) et de l'oxygene moleculaire, la photodissociation apparente de l'ozone n'etant due qu'a la migration hors de la cage de quelques atomes d'oxygene #1d. En matrice de n#2, la photodissociation de l'ozone est d'ordre 1. Les resultats confirment

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King, Heidi M. "Risk reduction decision making in women with BRCA1/2 gene mutations." [Tampa, Fla] : University of South Florida, 2008. http://purl.fcla.edu/usf/dc/et/SFE0002506.

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King, Heidi M. "Risk Reduction Decision Making in Women with BRCA1/2 Gene Mutations." Scholar Commons, 2007. https://scholarcommons.usf.edu/etd/334.

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With technological advances in 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 prophylactic mastectomy for women with a BRCA1/2 mutation. To address this issue, 137 unaffected, positive BRCA1/2 gene mutation carriers (42 who opted for prophylactic mastectomy, 95 who did not) served as participants. All women completed an on-line battery that assess

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Inagaki(Kawata), Yukiko. "Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263544.

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Mampunye, Lwando. "MammaPrint risk score distribution in breast cancer patients with BRCA1/2 mutations." Thesis, Cape Peninsula University of Technology, 2020. http://hdl.handle.net/20.500.11838/3080.

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Thesis (MSc (Biomedical Technology))--Cape Peninsula University of Technology, 2020<br>Background: Tumour characteristics such as estrogen receptor, progesterone receptor and human epidermal growth factor receptor-2 status are routinely assessed using immunohistochemistry in all newly-diagnosed breast cancer patients. These biomarkers form part of the selection criteria used to determine the appropriateness of transcriptional gene profiling using MammaPrint, a 70-gene assay with level 1A evidence for chemotherapy selection in patients with early-stage breast carcinoma. This MammaPrint pre-scre

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Stjepanovic, Djurasinovic Neda. "Utilidad clínica de la salpingo-ooforectomía bilateral profiláctica en la reducción de riesgo de cáncer de mama en el síndrome de cáncer de mama y ovario hereditario asociado a variantes patogénicas en BRCA1 o BRCA2." Doctoral thesis, Universitat Autònoma de Barcelona, 2021. http://hdl.handle.net/10803/673763.

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L’evidència disponible respecte a l’associació de la salpingo-ooforectomia bilateral profilàctica (SOBP) i la reducció de risc de càncer de mama en portadores de BRCA1/2 és conflictiva, a causa de potencials biaixos metodològics en les anàlisis prèviament publicats. Així mateix, la relació entre la SOBP en el període premenopàusic i el risc de càncer de mama en portadores de BRCA1/2 no s’ha estudiat en profunditat. Aquest estudi va analitzar 444 portadores de BRCA1 i 409 portadores de BRCA2 de registres internacionals amb un estricte control metodològic de biaixos per analitzar l’associació e

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REGUEIRA, NETO Marcos da Silveira. "Análise estrutural, aplicação filogenética e barcode do ITS 2 na broca pequena da cana-de-açúcar Diatraea spp (Lepidoptera)." Universidade Federal de Pernambuco, 2014. https://repositorio.ufpe.br/handle/123456789/12495.

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Submitted by Amanda Silva (amanda.osilva2@ufpe.br) on 2015-03-13T15:04:42Z No. of bitstreams: 2 DISSERTAÇÃO Marcos da Silveira Neto.pdf: 2631812 bytes, checksum: b75b5dd740260c8e5df8486b6a787c94 (MD5) license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5)<br>Made available in DSpace on 2015-03-13T15:04:42Z (GMT). No. of bitstreams: 2 DISSERTAÇÃO Marcos da Silveira Neto.pdf: 2631812 bytes, checksum: b75b5dd740260c8e5df8486b6a787c94 (MD5) license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Previous issue date: 2014<br>FACEPE<br>No Brasil as espéci

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Park, Dongju. "The role of PALB2 in BRCA1/2-mediated DNA repair and tumor suppression." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1502525517885784.

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Aba-Kırcın, Fatma. "Risikoberechnungsverfahren für die Entstehung eines Mammakarzinoms und das Vorliegen einer prädisponierenden BRCA1/2-Mutation." [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=966357132.

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41

Suzuki, Ayaka. "Familial Communication of Positive BRCA1/2 Genetic Testing Results: A Relational Dialectics Theory Approach." University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1504787059498275.

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42

Lours, Corinne. "Contrôle de l'identité cellulaire par les régulateurs transcriptionnels à domaine BTB/POZ Bric à brac 1 et Bric à brac 2 chez Drosophila melanogaster." Clermont-Ferrand 1, 2003. http://www.theses.fr/2003CLF1MM07.

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Skates, Steven J., Mark H. Greene, Saundra S. Buys, et al. "Early detection of ovarian cancer using the risk of ovarian cancer algorithm with frequent CA125 testing in women at increased familial risk-combined results from two screening trials." American Association for Cancer Research, 2017. http://hdl.handle.net/10150/625973.

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Purpose: Women at familial/genetic ovarian cancer risk often undergo screening despite unproven efficacy. Research suggests each woman has her own CA125 baseline; significant increases above this level may identify cancers earlier than standard 6-12 monthly CA125>35U/mL. Experimental Design: Data from prospective Cancer Genetics Network and Gynecologic Oncology Group trials, which screened 3,692 women (13,080 woman-screening years) with a strong breast/ovarian cancer family history or BRCA1/2 mutations, were combined to assess a novel screening strategy. Specifically, serum CA125 q3 months, e

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BEZERRA, Matheus Filgueira. "O papel de polimorfismos nos genes TP53, GSTT1, GSTM1 e da metilação no gene BRCA1 na Leucemia Mielóide Aguda do adulto." UFPE, 2014. https://repositorio.ufpe.br/handle/123456789/14016.

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Submitted by Irene Nascimento (irene.kessia@ufpe.br) on 2015-05-21T18:13:44Z No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Dissertação - Matheus Filgueira Bezerra.pdf: 1273109 bytes, checksum: 6d941505fbd1fa66ae0aee92822b04dd (MD5)<br>Made available in DSpace on 2015-05-21T18:13:44Z (GMT). No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Dissertação - Matheus Filgueira Bezerra.pdf: 1273109 bytes, checksum: 6d941505fbd1fa66ae0aee92822b04dd (MD5) Previous issue date: 2014-11-19<br>Capes<br>Leuc

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Pointud, Jean-Christophe. "Identification des partenaires des protéines régulatrices Bric à Brac 1 et Bric à Brac 2 chez Drosophila melanogaster : caractérisation moléculaire des protéines BIP1 et BIP2/dTAFII155." Clermont-Ferrand 1, 2001. http://www.theses.fr/2001CLF1MM10.

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Gibbons, Deborah Kay. "“It's Not Only About Them:“ Female Family Members' Understanding of Indeterminate Negative BRCA1/2 Test Results." BYU ScholarsArchive, 2018. https://scholarsarchive.byu.edu/etd/7701.

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Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members' understanding of indeterminate negative BRCA1/2 test results. The purpose of this qualitative descriptive study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40-74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 tes

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Guedaoura, Sonya. "Pratiques de dépistage du cancer des femmes non porteuses de mutations familiales des gènes BRCA1/2." Master's thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/27686.

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Les femmes non porteuses de mutations familiales des gènes BRCA1 ou BRCA2 présentent un risque de cancers du sein et de l'ovaire généralement comparable à celui des femmes de la population générale du même âge. Par conséquent, elles ne sont pas à risque élevé pour ces cancers et devraient suivre les recommandations de dépistage s'adressant aux femmes de la population générale. Toutefois, des études antérieures suggèrent que les pratiques de dépistage du cancer des non-porteuses « excèdent » ces recommandations. Ce projet a pour objectif de décrire les comportements de dépistage des femmes non

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48

Santerre-Theil, Ariane. "Développement d'un outil d'aide à la communication : parler aux enfants mineurs du résultat d'un test BRCA1/2." Master's thesis, Université Laval, 2016. http://hdl.handle.net/20.500.11794/27022.

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Les individus porteurs d'une mutation des gènes BRCA1/2 s'inquiètent généralement du risque de leurs enfants d'avoir hérité de la mutation génétique familiale. Malgré l'absence d'avantages médicaux pour les enfants mineurs et l'impossibilité pour eux d'être testés avant d'être adultes, une majorité des parents leur communiquent néanmoins le résultat du test génétique BRCA1/2. Les parents confrontés à cette situation disent avoir besoin d'être accompagnés dans cette décision. L'objectif de ce projet, à devis qualitatif, était de développer un outil d'aide à la décision à l'intention des individ

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Jamieson-Datzkiw, Taylor Rae. "A Tailored Viro-Immunotherapy Combination Approach for the Treatment of BRCA1/2 Mutated Breast and Ovarian Cancers." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42736.

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Hereditary breast and ovarian cancers (HBOC) represent 5-10% of breast and 10-15% of ovarian cancer cases. These cancers tend to be aggressive and curative treatment strategies are scarce. Poly(ADP-ribose) polymerase inhibitors (PARPi), a family of drugs that inhibit DNA repair, are a promising therapy for cancers harbouring mutations in their DNA repair machinery, such as HBOC. Unfortunately, nearly all patients ultimately become resistant to PARPi, leaving limited options for definitive treatment. Oncolytic or “cancer-killing” viruses are an innovative immunotherapeutic platform capable of s

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Chivers, Seymour Kimberley-Clair. "Talking to relatives about genetic testing for BRCA1/2 and its risk implications : an on-going discussion." Thesis, University of Southampton, 2013. https://eprints.soton.ac.uk/354118/.

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Background: Access to genetic cancer risk information can be highly dependent on whether familial risks are discussed within the family. Despite its essential role in ensuring family members have access to genetic services, there are a number of gaps in the knowledge available on people’s experiences regarding talking to their relatives about genetic testing for BRCA1/2 and its risk implications. In particular, research to date has focused far more on with whom and why (motivations) family communication regarding genetic testing occurs, rather than when or how it is occurring. Method: The stud

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