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Dissertations / Theses on the topic 'BRCA2 Genes'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Batista, Rui Pedro Monteiro. "Caracterização das mutações dos genes BRCA1 e BRCA2." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10136.

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Mestrado em Biologia Molecular e Celular<br>O cancro da mama é o tipo de neoplasia maligna mais incidente nas mulheres a nível mundial. Na maior parte dos casos tem origem esporádica, mas estima-se que cerca de 7% tem origem hereditária, relacionada com a herança genética de alguma mutação patogénica em genes de suscetibilidade para este cancro. A causa mais frequente de cancro hereditário da mama/ovário é a alteração de um dos genes BRCA (BRCA1 ou BRCA2). De fato as mutações germinativas destes genes são responsáveis por cerca de 50% dos casos de cancro hereditário da mama e/ou ovário.

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2

Mavaddat, Nasim. "Risk modelling in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610839.

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3

Escobar, Karina Augusto. "Determinação de mutações e polimorfismo nos genes BRCA1 e BRCA2 em pacientes com câncer de mama com indicação para teste genético." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5155/tde-05092011-152557/.

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Introdução: Mutações nos genes BRCA1 e BRCA2 são responsáveis por cerca de 50% dos casos de câncer de mama e/ou ovário hereditários. Atualmente não conhecemos o perfil de mutações destes genes na população brasileira, com exceção de mutações fundadoras que ocorrem em grupos étnicos específicos. Objetivos: Detectar mutações e polimorfismos nos genes BRCA1 e BRCA2 em 73 pacientes com câncer de mama selecionadas para o teste genético. Casuística e métodos: Realizamos o sequenciamento direto e o teste de MLPA para os genes BRCA1 e BRCA2 em 73 indivíduos, sendo 63 pacientes com câncer de mama com r

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4

Huusko, P. (Pia). "Predisposing genes in hereditary breast and ovarian cancer." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514254422.

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Abstract In the present study, mutations in BRCA1 and BRCA2, the two major genes predisposing individuals to hereditary breast and ovarian cancer, were screened in Finnish and Turkish cancer families. Germline BRCA1 mutations were found in 7% (6/88) and BRCA2 mutations in 6% (5/88) of the Finnish families studied in Oulu. Two distinct BRCA1 (3745delT, 4216nt-2A→G) and three BRCA2 (999delTCAAA, 6503delTT, 9346nt-2A→G) mutations were identified, all of which are recurrently found in Finland. In the 15 Turkish cancer families studied, 5382insC and 5622C→T were detected in BRCA1, and 3414delTCAG i

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RAMALHO, Eduardo Augusto Vasconcelos de Freitas. "Avaliação de alterações nos genes p53, BRCA1 em Carcinoma Ductal Invasivo de Mama (CDI)." Universidade Federal de Pernambuco, 2012. https://repositorio.ufpe.br/handle/123456789/10853.

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Submitted by Israel Vieira Neto (israel.vieiraneto@ufpe.br) on 2015-03-05T18:13:15Z No. of bitstreams: 2 Eduardo Ramalho.pdf: 538304 bytes, checksum: e4a30cf566174291fcd76bbfacaf4eff (MD5) license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5)<br>Made available in DSpace on 2015-03-05T18:13:15Z (GMT). No. of bitstreams: 2 Eduardo Ramalho.pdf: 538304 bytes, checksum: e4a30cf566174291fcd76bbfacaf4eff (MD5) license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Previous issue date: 2012<br>CAPES<br>Sabe-se que os genes p53, BRCA1 e BRCA2 apresentam a

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6

Alwahiby, Suliman Abdullah M. "Molecular cytogenetic analysis of telomeres in cells with mutant BRCA1 and BRCA2 genes." Thesis, Brunel University, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.425381.

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7

Liu, Wei. "Genetic analysis of the BRCA1 and BRCA2 genes in breast cancer of Hong Kong Chinese." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/HKUTO/record/B39558848.

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8

Liu, Wei, and 劉蔚. "Genetic analysis of the BRCA1 and BRCA2 genes in breast cancer of HongKong Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B39558848.

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9

Ewald, Ingrid Petroni. "Caracterização de um grupo de pacientes em risco para câncer de mama e ovário hereditários quanto a presença e frequência de rearranjos gênicos em BRCA." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2012. http://hdl.handle.net/10183/53154.

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O câncer de mama é uma das neoplasias malignas mais comuns que afetam mulheres de todo o mundo. No Brasil, o Estado do Rio Grande do Sul tem índices de incidência e mortalidade por câncer de mama que situam-se entre os maiores do país. Aproximadamente 5-10% dos diagnósticos são causados por mutações germinativas em genes de predisposição entre os quais estão BRCA1 e BRCA2, associados à Síndrome de Câncer de mama e Ovário Hereditários (Hereditary Breast and Ovarian Cancer Syndrome ou HBOC, OMIM #114480).A identificação dos casos hereditários de câncer de mama é importante porque indivíduos afet

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10

Ramirez, Christina J. "BRCA genes : conserved regions and the potential effect of missense changes /." Thesis, Connect to this title online; UW restricted, 2005. http://hdl.handle.net/1773/5052.

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11

Margolin, Sara. "Family history and breast cancer susceptibility : clinical and molecular studies /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-868-1/.

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12

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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13

Vallée, Maxime. "Design of an internet tool to assess variants of uncertain clinical significance in high-risk breast cancer genes BRCA1 and BRCA2." Thesis, Lyon 1, 2012. http://www.theses.fr/2012LYO10193.

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Des mutations germinales dans les gènes majeurs du cancer du sein BRCA1 et BRCA2 sont responsables de la maladie chez les patientes cumulant histoire familiale et apparition du cancer à un jeune âge. Environ 15% des femmes testées pour les mutations de BRCA1 et BRCA2 sont porteuses d’une mutation clairement pathogénique dans un des deux gènes. Cependant, des variants de signification clinique incertaine (VUS pour "variants of uncertain clinical significance") sont détectés dans 5% à 15% des cas testés. Pour évaluer la signification clinique des VUS, le Breast cancer Infomation Core (BIC) a dév

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Goveia, Rebeca Mota. "Análise de deleção/ duplicação nos genes BRCA1 e BRCA2 em pacientes de Goiás-Brasil com suspeita da síndrome do câncer de mama e ovário hereditário." Universidade Federal de Goiás, 2018. http://repositorio.bc.ufg.br/tede/handle/tede/8723.

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Submitted by Luciana Ferreira (lucgeral@gmail.com) on 2018-07-19T10:42:04Z No. of bitstreams: 2 Dissertação - Rebeca Mota Goveia - 2018.pdf: 2457051 bytes, checksum: 721dc25f2c29d54fc3bd4f0f13c5fc83 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)<br>Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2018-07-19T11:18:57Z (GMT) No. of bitstreams: 2 Dissertação - Rebeca Mota Goveia - 2018.pdf: 2457051 bytes, checksum: 721dc25f2c29d54fc3bd4f0f13c5fc83 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)<br>Made available

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15

Novak, David. "A multifaceted approach to elucidating the role of BRCA1- and BRCA2- related genes in hereditary breast cancer." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=86576.

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5-10% of hereditary breast cancer cases are caused by germline mutations in well-defined, dominantly acting susceptibility genes such as BRCA1 and BRCA2. However, more than 50% of the genetic predisposition to hereditary breast cancer remains unexplained. In the following thesis, we present a multifaceted approach aimed at further elucidating hereditary breast cancer associated with BRCA1 and BRCA2 interacting genes; specifically, by analyzing the potential contribution from of two previously unscreened BRCA1-associating genes, RAP80 and Abraxas, assessing the presence and risk associated with

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16

Santos, Catarina Gomes Rodrigues. "Avaliação da patogenicidade de mutações germinativas de significado desconhecido nos genes BRCA1 e BRCA2 em famílias portuguesas." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2008. http://hdl.handle.net/10216/9163.

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17

Santos, Catarina Gomes Rodrigues. "Avaliação da patogenicidade de mutações germinativas de significado desconhecido nos genes BRCA1 e BRCA2 em famílias portuguesas." Dissertação, Instituto de Ciências Biomédicas Abel Salazar, 2008. http://hdl.handle.net/10216/9163.

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18

MARGARESE, Naomi. "Genetic analysis of BRCA1 and BRCA2 genes in Sicilian high risk families and functional characterization of BRCA1 variants of uncertain significance (VUS)." Doctoral thesis, Università degli Studi di Palermo, 2014. http://hdl.handle.net/10447/90823.

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19

Paladini, L. "BIOLOGICAL SIGNIFICANCE OF ALTERATIONS IN BRCA1 AND BRCA2 GENES AND RESPONSE TO DNA DAMAGE AGENTS IN HEREDITARY BREAST CANCER." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/488444.

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Background: Although the large number of studies investigating BRCA mutations and their clinical role in different populations and ethnicities, there is a lack of a systematic analysis on these alterations in Italian cohorts, including the analysis of Variants of Unknown biological and clinical Significance (VUS). Moreover, correct management of breast cancer patients tested positive for alterations in BRCA1 or BRCA2 genes is still controversial. We aimed to assess the biological and clinical relevance of BRCA alterations in a consecutive cohort of hereditary breast cancer patients, with parti

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20

Dray, Eloïse. "Functional analysis of the BRCA2 genes in the model plant Arabidopsis thaliana." Paris 11, 2006. http://www.theses.fr/2006PA112104.

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Dans toutes les cellules vivantes, le génome est soumis à des stress internes ou extérieurs à la cellule provoquent des cassures de l'ADN pouvant avoir des conséquences dramatiques. La division cellulaire peut être arrêtée, ou la cellule peut entrer dans un programme de mort cellulaire programmée. Tous les organismes vivants possèdent donc des systèmes de reconnaissance et de réparation des dommages de l'ADN, qui sont spécifiques du type de lésion à éliminer. Les principaux sont la réparation par recombinaison homologue et la réparation par ligation d'extrémités non homologues. L'inactivation

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21

Rapakko, K. (Katrin). "Hereditary predisposition to breast cancer—evaluation of candidate genes." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514284502.

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Abstract In Western countries, breast and ovarian cancer are among the most frequent malignancies affecting women. Approximately 5–10% of the cases in the general population have been suggested to be attributed to inherited disease susceptibility. BRCA1 and BRCA2 are the main genes associated with predisposition to breast and ovarian cancer. Mutations in these two genes explain a major part of the families displaying a large number of early-onset breast and/or ovarian cancers, but at least one third of the cases appear to be influenced by other, as yet unidentified genes. Therefore, it is like

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22

Padilla, Sirera Natàlia. "Novel approaches for in silico identification of pathogenic variants in BRCA1 and BRCA2 hereditary breast and ovarian cancer predisposition genes." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/670705.

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Variants germinals a les proteïnes BRCA1 i BRCA2 poden alterar la funció protectora d’aquestes a l’ADN, incrementant el risc de desenvolupar càncer de mama i ovari hereditari (HBOC). Identificació d’aquells individus portadors de variants patogèniques permet canalitzar-los en programes específics de prevenció i vigilància, augmentant les seves taxes de supervivència. Per això, en primer lloc, cal identificar quines de les variants són patogèniques. Malauradament, no sempre hi ha prou informació per arribar a una conclusió. En aquesta situació, els predictors de patogenicitat dissenyats per est

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23

Guillemette, Shawna S. "Investigating Tumor Suppressors in the DNA Damage Response: Caretakers of the Genome and Biomarkers to Predict Therapeutic Response: A Dissertation." eScholarship@UMMS, 2014. https://escholarship.umassmed.edu/gsbs_diss/712.

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Our genome is constantly challenged by sources that cause DNA damage. To repair DNA damage and maintain genomic stability eukaryotes have evolved a complex network of pathways termed the DNA damage response (DDR). The DDR consists of signal transduction pathways that sense DNA damage and mediate tightly coordinated reactions to halt the cell cycle and repair DNA with a collection of different enzymes. In this manner, the DDR protects the genome by preventing the accumulation of mutations and DNA aberrations that promote cellular transformation and cancer development. Loss of function mutations

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Guillemette, Shawna S. "Investigating Tumor Suppressors in the DNA Damage Response: Caretakers of the Genome and Biomarkers to Predict Therapeutic Response: A Dissertation." eScholarship@UMMS, 2004. http://escholarship.umassmed.edu/gsbs_diss/712.

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Our genome is constantly challenged by sources that cause DNA damage. To repair DNA damage and maintain genomic stability eukaryotes have evolved a complex network of pathways termed the DNA damage response (DDR). The DDR consists of signal transduction pathways that sense DNA damage and mediate tightly coordinated reactions to halt the cell cycle and repair DNA with a collection of different enzymes. In this manner, the DDR protects the genome by preventing the accumulation of mutations and DNA aberrations that promote cellular transformation and cancer development. Loss of function mutations

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25

Skoulidis, Ferdinandos. "Models of pancreatic carcinogenesis associated with inactivation of the BRCA2 breast cancer susceptibility gene." Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609916.

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26

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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27

Dufloth, Rozany Mucha. "Carcinoma de mama hereditario em mulheres brasileiras : mutações dos genes BRCA1 e BRCA2, polimorfismos dos genes de reparo do DNA e caracterização imunoistoquimica pela tecnica de Tissue Microarray." [s.n.], 2004. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313286.

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Orientadores: Luiz Carlos Zeferino, Fernando Carlos de Lander Schmitt<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-04T01:21:30Z (GMT). No. of bitstreams: 1 Dufloth_RozanyMucha_D.pdf: 623963 bytes, checksum: 756d732465da74e705449411420fb717 (MD5) Previous issue date: 2004<br>Resumo: OBJETIVOS: Identificar mutações nos genes BRCA1 e BRCA2 em uma população brasileira com câncer de mama hereditário; analisar a freqüência de polimorfismos nos genes XRCC1, XPD, XRCC3 e RAD51 em um grupo de pacientes brasileiras e sua

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Galvão, Violeta Regnier. "Biomarcadores na anafilaxia a platinas." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/5/5146/tde-27032018-133113/.

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INTRODUÇÃO: O câncer constitui-se na principal causa de mortalidade entre indivíduos de 45 a 84 anos, configurando-se em um dos principais problemas de saúde pública dos países em desenvolvimento. As reações de hipersensibilidade aos quimioterápicos têm aumentado, impedindo muitas vezes a utilização de terapias de primeira linha no tratamento de neoplasias primárias ou recidivantes. O procedimento de dessensibilização é uma abordagem alternativa, por meio do qual o paciente passa a tolerar a medicação que antes desencadeava reações potencialmente letais. Quimioterápicos do grupo das platinas s

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29

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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Yassaee, Vahid Reza. "Towards a general strategy for breast cancer : investigation of germline mutations of BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer." Thesis, University of Sheffield, 2002. http://etheses.whiterose.ac.uk/5987/.

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Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. It results from genetic and environmental factors leading to the accumulation of mutations in essential genes, BRCA 1and BRCA2. To date, germline mutations in the BRCAI and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified within the Iranian population. This study was set for two main purposes, in first for a cohort study of selected population (Iranian women) with early-onset breast cancer and secondly to evaluate and improve upon existing mutation d

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Ewald, Ingrid Petroni. "Rastreamento de mutações patogênicas nos genes BRCA1 e BRCA2 em pacientes brasileiras em risco para a síndrome de câncer de mama e ovário hereditários." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2008. http://hdl.handle.net/10183/12657.

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No Brasil, o câncer de mama é considerado um problema significativo de saúde pública, devido a suas altas taxas de incidência e mortalidade. No Rio Grande do Sul, os índices de incidência e mortalidade situam-se entre os maiores do país. É sabido que 5-10% de todos os casos de câncer de mama são hereditários, ou seja, causados principalmente por mutações germinativas em genes de predisposição. A identificação dos casos hereditários de câncer de mama é importante por várias razões. Primeiro, porque indivíduos afetados apresentam risco cumulativo vital muito superior ao da população para o desen

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Quiles, Vidal Francisco de Asís. "Síndrome de cáncer de mama y ovario hereditario: Estudio in vitro de variantes BRCA1 y BRCA2 de significado biológico desconocido y búsqueda de nuevos genes responsables de este síndrome." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/385989.

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ANTECEDENTES: Entre un 20-25% de pacientes con cáncer de mama y ovario muestran historia familiar de dicha enfermedad. Una porción de estos casos son debidos a mutaciones germinales en genes de predisposición conocidos y se engloban dentro del síndrome de cáncer de mama y ovario hereditario (SCMOH). Mutaciones en los genes BRCA1/2, genes de alta penetrancia para este síndrome, explican alrededor de un 20% de los casos familiares. El estudio mutacional de estos genes identifica entre un 2-15 de variantes cuyo significado biológico es desconocido (VSD), dependiendo de la población analizada y la

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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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Becker, Alexandra Angela [Verfasser]. "Funktionelle Analyse unklassifizierter Varianten der Gene BRCA1 und BRCA2 / Alexandra Angela Becker." Köln : Deutsche Zentralbibliothek für Medizin, 2013. http://d-nb.info/1045459046/34.

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Oh, Yeum Mok, and Yeum Mok Oh. "BRCA1 and BRCA2 Gene Mutations in Colorectal Cancer: A Systematic Review and Meta-Analysis." Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625685.

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Background: The relevant risks associated with BRCA1 and BRCA2 mutation in breast and ovarian cancer have been well studied. BRCA mutations have also been found to be associated with other cancers, including colorectal cancer, but with conflicting results. Aims: We performed a systematic review and meta-analysis to identify, characterize, and review published studies evaluating BRCA mutation carriers with colorectal cancer, and to quantify the risk of colorectal cancer overall and in subgroups of BRCA mutation carriers. Methods: Eligible studies were retrieved through systematic review usin

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Diz, Maria Del Pilar Estevez. "Impacto do encaminhamento para ambulatório de câncer hereditário na qualidade de vida de pacientes portadores de câncer de mama." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5155/tde-20082007-161259/.

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Neste trabalho, medimos o impacto da avaliação do risco de mutações dos genes BRCA1/2 na qualidade de vida de pacientes com câncer de mama, avaliada pelos questionários EORTC QLQ-C30 e QLQ-BR23. Convidamos 282 pacientes a participar, respondendo aos questionários antes e depois da avaliação do risco pelos métodos de Frank, Evans e BRCAPRO. Consideramos risco elevado pelo menos 10%. 272 foram incluídas e 198 completaram o estudo. Nas 180 avaliáveis, a idade mediana das pacientes foi de 53 anos com desvio padrão de 11,5 anos e, em 89, o tempo desde o diagnóstico de menos de 36 meses. 40 paciente

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Nguyen-Dumont, Binh Thieu Tu. "Study of differential allelic expression in the breast cancer intermediate-risk susceptibility genes CHEK2, ATM and TP53." Phd thesis, Université Claude Bernard - Lyon I, 2010. http://tel.archives-ouvertes.fr/tel-00838546.

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We aimed to assess whether the breast-cancer intermediate-risk genes CHEK2, ATM ant TP53 were subject to differential allelic expression (DAE) in lymphoblastoid cell lines (LCLs) from high-risk breast cancer patients for whom no mutation in BRCA1 or BRCA2 had been identified.We implemented an assay based on high-resolution melting curve analysis (HRM) of single labeled fluorescent probes to detect allelic expression imbalance. The method relies on the distinction of the two alleles of an exonic marker SNP in heterozygous individuals with a fluorescent signal correlated to the relative abundanc

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Marafie, Makia. "Investigations of BRCA1 or BRCA2 gene changes in women affected by early onset breast or ovarian cancer." Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311839.

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Gedminaitė, Jurgita. "Krūties vėžiu sergančių moterų BRCA1, BRCA2, CHEK2 ir NBS1 genų mutacijų tyrimas ir jų ryšio su kitais prognoziniais veiksniais paieška." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130919_143947-94587.

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Apie 5–10 proc. visų krūties navikų atvejų sudaro paveldimas vėžys. BRCA1 ir BRCA2 genai yra patys svarbiausi polinkį susirgti krūties vėžiu sąlygojantys genai. Kiti reikšmingai su padidėjusia krūties navikų išsivystymo rizika susiję – CHEK2 ir NBS1 genai. Šiame darbe ištirtos paveldimos dažniausiai Europos regione nustatomos šių genų mutacijos. Nustatytas BRCA1 ir CHEK2 genų mutacijų dažnis tarp jaunų krūties vėžiu susirgusių moterų, ištyrinėtos jų sąsajos su pacientės amžiumi, naviko klinikinėmis ir morfologinėmis savybėmis. Išanalizuota šeiminės anamnezės prognozinė vertė nustatant paveldim

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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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Turk, Casey M. "Paralemmin splice variants and mRNA and protein expression in breast cancers." Connect to this title, 2008. http://scholarworks.umass.edu/theses/194/.

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Puget, Nadine. "Prédisposition génétique au cancer du sein : recherche de mutations dans les régions régulatrices et de réarrangements structuraux du gène BRCA1." Lyon 1, 1999. http://www.theses.fr/1999LYO1T093.

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43

Campos, Estela Berta. "Anàlisi molecular dels gens "BRCA1" i "BRCA2" en el càncer de mama hereditari. Caracterització de mutacions recurrents i estudi de variants d'efecte biològic desconegut." Doctoral thesis, Universitat de Barcelona, 2006. http://hdl.handle.net/10803/881.

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El càncer de mama és la neoplàsia més freqüent en la dona a Catalunya, amb una prevalença de 45.000 casos l'any 2005. Entre un 5% i un 10% de tots els casos presenta un component hereditari degut a mutacions germinals en gens de susceptibilitat, fonamentalment BRCA1 i BRCA2, els quals s'associen a la síndrome de càncer de mama i ovari hereditari (CMOH), caracteritzada per la presència de casos de càncer de mama i ovari en una mateixa família o de múltiples casos de càncer de mama precoç. <br/><br/>L'objectiu principal d'aquest treball és l'estudi molecular dels gens BRCA1 i BRCA2 en pacients a

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Chadwell, Sarah E. B. S. "Factors Influencing Clinical Follow-up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Negative or Uncertain BRCA1 and BRCA2 Testing." University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1491317215551797.

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Schneegans, Sarah Maj [Verfasser], Wolfgang [Akademischer Betreuer] Engel, and Heike [Akademischer Betreuer] Bickeböller. "Zur Risikokalkulation für Mutationen in den Genen BRCA1 und BRCA2 in Familien mit Brustkrebs / Sarah Maj Schneegans. Gutachter: Wolfgang Engel ; Heike Bickeböller. Betreuer: Wolfgang Engel." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2011. http://d-nb.info/1042723540/34.

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Hughes-Davies, Luke. "A functional analysis of the breast cancer gene BRCA2." Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624318.

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Warren, M. V. "Structural And Functional Analysis Of The Chicken BRCA2 Gene." Thesis, Institute of Cancer Research (University Of London), 2002. http://publications.icr.ac.uk/10069/.

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Mutations in the BRCA2 gene confer a high risk of breast and other cancers. Here the chicken BRCA2 gene, the first non-mammalian BRCA2 gene to be isolated, has been cloned and characterised. The gene spans approximately 40kb of genomic DNA and is localised to the subtelomeric region of chromosome 1q, in a region that contains other genes found on human chromosome 13. Evolutionary analysis indicates that this is the true orthologue of mammalian BRCA2. Further putative BRCA2 related genes in lower species have been discovered by sequence alignment. The cDNA for the entire 3399 amino acid chicken

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Kotian, Shweta. "Identification of Novel Genes in BRCA1-Regulated Pathways." The Ohio State University, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=osu1366341897.

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Larochelle, Chantal. "Interactions physiques et fonctionnelles entre la region C-terminale de la protéine BRCA1 et la kinase CDK7." Sherbrooke : Université de Sherbrooke, 2004.

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Lee, Hyunsook. "Cell cycle checkpoints and the breast cancer susceptibility gene, BRCA2." Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624509.

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