Academic literature on the topic 'BRCA2 Genes'

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Journal articles on the topic "BRCA2 Genes"

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Zhang, Yinuo. "BRCA1, BRCA2 and primary ovarian insufficiency." E3S Web of Conferences 165 (2020): 05009. http://dx.doi.org/10.1051/e3sconf/202016505009.

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BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair. Mutations in BRCA genes significantly increase the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk for multiple malignancies, recent literature suggest that mutations in BRCA genes could lead to decreased ovarian reserve and subsequent ovarian aging. In this review, we will focus on role of BRCA1 and BRCA2 in ovarian function, particularly ovarian
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Bracci, Ciarapica, Zabaleta, et al. "BRCA1 and BRCA2 Gene Expression: Diurnal Variability and Influence of Shift Work." Cancers 11, no. 8 (2019): 1146. http://dx.doi.org/10.3390/cancers11081146.

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BRCA1 and BRCA2 genes are involved in DNA double-strand break repair and related to breast cancer. Shift work is associated with biological clock alterations and with a higher risk of breast cancer. The aim of this study was to investigate the variability of expression of BRCA genes through the day in healthy subjects and to measure BRCA expression levels in shift workers. The study was approached in two ways. First, we examined diurnal variation of BRCA1 and BRCA2 genes in lymphocytes of 15 volunteers over a 24-hour period. Second, we measured the expression of these genes in lymphocytes from
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Meireles, Pedro Antunes, Catarina Bexiga, Sofia Fragoso, Sidónia Santos, Teresa Duarte, and Fátima Vaz. "Abstract PO3-08-03: Comparing prognosis for BRCA1, BRCA2 and non-BRCA breast cancer." Cancer Research 84, no. 9_Supplement (2024): PO3–08–03—PO3–08–03. http://dx.doi.org/10.1158/1538-7445.sabcs23-po3-08-03.

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Abstract BACKGROUND Breast Cancer (BC) is the most diagnosed malignancy and the leading cause of cancer death in women worldwide. Approximately 10% of BC cases are hereditary, and up to 25% have been linked to germline variants of specific genes. Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial BC cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. BRCA1 e BRCA2 are tumor suppressor genes, which interact with recombination/DNA repair proteins in pathways that participate in preserving intact chromosome stru
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Novikova, EI, EA Kudinova, VK Bozhenko, and VA Solodkiy. "Characteristics of BRCA-associated breast cancer in the population of the Russian Federation." Features of HIV and SARS-CoV-2 coinfection in a pandemic, no. 2021(1) (February 2021): 24–29. http://dx.doi.org/10.24075/brsmu.2021.006.

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"Standard" diagnostic panels allow identification of only a few of BRCA1 and BRCA2 gene mutations most common in a population. Therefore, tests relying on such panels may return false negative results, since the coding regions of these genes may have other defects. For breast cancer (BC) patients, false negative test results may translate into selection of inadequate therapy by their doctors. This study aimed to identify the features of BRCA-associated breast cancer in the population of the Russian Federation. The study included breast cancer patients (n = 4440). At the first stage, all patien
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Tabaliuk, Y. O., L. A. Rybchenko, B. T. Klimuk, and S. V. Klymenko. "Screening for mutations in BRCA1 and BRCA2 genes and related perspectives for the healthcare system." Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv 18, no. 1-2 (2021): 44–57. http://dx.doi.org/10.7124/visnyk.utgis.18.1-2.1354.

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In the article there were looked some aspects of the knowledge regarding mutations in BRCA1 BRCA2 genes that have been accumulated since the first report on role of these genes in the development of breast and ovarian cancer. Most of them have practical worth related to the detection of mutations, as well as the prevention and treatment of associated ovarian cancer (the article focuses specifically on ovarian cancer, conditioned to relatively less amount of information on this pathology). There has been paid attention to the rational assignment of a genetic test on the presence of mutations in
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McNevin, Ciara S., Karen Cadoo, Anne-Marie Baird, et al. "Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer." Cancers 13, no. 22 (2021): 5697. http://dx.doi.org/10.3390/cancers13225697.

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Studies have demonstrated that men with Prostate Cancer (PCa) harboring BRCA2/BRCA1 genetic aberrations, are more likely to have worse disease and a poorer prognosis. A mutation in BRCA2 is known to confer the highest risk of PCa for men (8.6 fold in men ≤65 years) making BRCA genes a conceivable genomic biomarker for risk in PCa. These genes have attracted a lot of research attention however their role in the clinical assessment and treatment of PCa remains complex. Multiple studies have been published examining the relationship between prostate cancer and BRCA mutations. Here BRCA mutations
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Wen, Lu, Xiuxiu Li, Junping Shi, et al. "Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer." Journal of International Medical Research 48, no. 3 (2019): 030006051988622. http://dx.doi.org/10.1177/0300060519886226.

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Breast cancer gene 1 and 2 ( BRCA1 and BRCA2) are human tumor suppressor genes. BRCA mutations increase the risk for breast, ovarian, and gastric cancer. However, double heterozygosity for BRCA1 and BRCA2 mutations in gastric cancer have not been reported and their clinical significance is unclear. In this study, a 52-year-old Chinese male patient with gastric cancer was chosen for analysis. A tumor tissue biopsy and blood sample were collected, and next-generation sequencing-based deep panel sequencing was performed on the IlluminaNextSeq-500 platform. Comprehensive genomic alterations of 450
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Журман, В. Н., Н. Г. Плехова, and М. Л. Филипенко. "Mutational Status of BRCA Genes in Ovarian Cancer." Евразийский онкологический журнал, no. 2 (August 16, 2022): 118–25. http://dx.doi.org/10.34883/pi.2022.10.2.016.

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Носители герминальных мутаций генов – супрессоров опухолей BRCA1/2 (Brest cancer gene 1/2) имеют повышенный риск развития рака молочной железы, яичников. Также в результате соматических мутаций функциональность BRCA теряется только в одной клетке, которая может стать мутагенной и дать начало злокачественной опухоли.Материалы и методы. Проводили анализ генов BRCA1/2 образцов ДНК из лейкоцитов (n=143) и фиксированных в формалине и залитых в парафин (FFPE) тканей опухоли (n=208) пациентов (n=306) с раком яичника. Мультиплексная амплификация целевых последовательностей ДНК осуществлялась с помощью
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Woodward, Emma R., and Stefan Meyer. "Fanconi Anaemia, Childhood Cancer and the BRCA Genes." Genes 12, no. 10 (2021): 1520. http://dx.doi.org/10.3390/genes12101520.

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Fanconi anaemia (FA) is an inherited chromosomal instability disorder characterised by congenital and developmental abnormalities and a strong cancer predisposition. In less than 5% of cases FA can be caused by bi-allelic pathogenic variants (PGVs) in BRCA2/FANCD1 and in very rare cases by bi-allelic PGVs in BRCA1/FANCS. The rarity of FA-like presentation due to PGVs in BRCA2 and even more due to PGVs in BRCA1 supports a fundamental role of the encoded proteins for normal development and prevention of malignant transformation. While FA caused by BRCA1/2 PGVs is strongly associated with distinc
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Hou, Minmin, Li Sun, Xiuzhang Yu, et al. "The landscape of BRCA1 and BRCA2 alterations in Chinese ovarian cancer patients." Journal of Clinical Oncology 41, no. 16_suppl (2023): e17565-e17565. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e17565.

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e17565 Background: BRCA1 and BRCA2 are tumour suppressor genes, involved in the homologous repair of double-stranded DNA breaks, located at 17q21.31 and 13q13.1, respectively. Germline BRCA1/2 mutations are identified in 13-15% of ovarian cancers (OC), while an additional 5-7% of ovarian cancers harbor somatic BRCA1/2 mutations among foreign populations. To determine the landscape of germline and somatic pathogenic BRCA1 and BRCA2 alterations in Chinese patients with ovarian cancer tested by next‐generation sequencing (NGS), with the aim of defining the best strategy to be implemented in futur
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Dissertations / Theses on the topic "BRCA2 Genes"

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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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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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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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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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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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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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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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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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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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Books on the topic "BRCA2 Genes"

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H, Lu Karen, ed. Hereditary gynecologic cancer: Risk, prevention, and management. Informa Healthcare, 2008.

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Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters and genes. Clipper Large Print, 2010.

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Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters, and the BRCA gene. Scribner, 2009.

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Herrlinger, Karolina Anna. Die Patentierung von Krankheitsgenen: Dargestellt am Beispiel der Patentierung der Brustkrebsgene BRCA 1 und BRCA 2. Heymanns, 2005.

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author, Gosline Diana, and Smith Diana author, eds. Deleterious: A Mutant Gene Zine. the authors, 2015.

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Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters, and the BRCA gene. Scribner, 2010.

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service), SpringerLink (Online, ed. The Role of Genetics in Breast and Reproductive Cancers. Springer Science+Business Media, LLC, 2010.

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Lu, Karen H. Hereditary Gynecologic Cancer: Risk, Prevention and Management. Taylor & Francis Group, 2008.

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Lu, Karen H. Hereditary Gynecologic Cancer: Risk, Prevention and Management. Taylor & Francis Group, 2008.

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Pandora's DNA: Tracing the Breast Cancer Genes Through History, Science, and One Family Tree. Chicago Review Press, Incorporated, 2018.

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Book chapters on the topic "BRCA2 Genes"

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Venkitaraman, Ashok R. "Breast Cancer Genes BRCA1 and BRCA2." In Encyclopedia of Cancer. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_718.

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Gabriel, Anastasia, and Alan Ashworth. "The Breast Cancer Susceptibility Genes BRCA1 and BRCA2." In Cancer Drug Discovery and Development. Humana Press, 2002. https://doi.org/10.1007/978-1-59259-153-4_11.

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Saleem, Mohamed, Mohd Bazli Ghazali, Md Azlan Mohamed Abdul Wahab, et al. "The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients." In Advances in Experimental Medicine and Biology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/5584_2018_147.

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Tavtigian, Sean V. "Unclassified Variants in the Breast Cancer Susceptibility Genes BRCA1 and BRCA2." In The Role of Genetics in Breast and Reproductive Cancers. Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-0477-5_3.

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Hampl, M., J. Hampl, St Frank, et al. "Allelverlust von prädisponierenden Genen (BRCA1, BRCA2, AT, p53) bei Mammakarzinomen und deren Metastasen." In Chirurgisches Forum ’96 fur experimentelle und klinische Forschung. Springer Berlin Heidelberg, 1996. http://dx.doi.org/10.1007/978-3-642-80138-9_41.

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Golen, Kenneth L., and Sofia D. Merajver. "Structure and Function of BRCA Genes." In Endocrine Oncology. Humana Press, 2000. http://dx.doi.org/10.1007/978-1-59259-223-4_18.

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Han, Sang-Ah, and Sung-Won Kim. "BRCA and Breast Cancer-Related High-Penetrance Genes." In Advances in Experimental Medicine and Biology. Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-32-9620-6_25.

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Eißing, Tabea. "Vorbeugen und Verhindern. Über den vereindeutigenden Umgang mit Unsicherheit bei Frauen mit einer BRCA-Mutation." In Die Regierung der Gene. Springer Fachmedien Wiesbaden, 2015. http://dx.doi.org/10.1007/978-3-658-09651-9_3.

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Zhu, Yining, Ethan Sun, and Yongsheng Bai. "Dissecting Biological Functions for BRCA Genes and Their Targeting MicroRNAs Within Eight Clusters." In Big Data – BigData 2020. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-59612-5_18.

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Martzoukos, Yannis, Sozon Papavlasopoulos, Marios Poulos, and Maria Syrrou. "Biobibliometrics (UGDH-TP53–BRCA1) Genes Connections in the Possible Relationship Between Breast Cancer and EEG." In Advances in Experimental Medicine and Biology. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-57379-3_10.

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Conference papers on the topic "BRCA2 Genes"

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Neta, Amanda Nunes de Cerqueira Souza, and Elisângela Mascarenhas da Silva. "PERFIL EPIDEMIOLÓGICO DOS ÓBITOS DE MULHERES POR NEOPLASIA MALIGNA DE OVÁRIO NO BRASIL, DE 2018 A 2022." In Anais do I Congresso Regional de Saúde Materno Infantil. Even3, 2024. http://dx.doi.org/10.29327/1439003.1-1.

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Introdução: A neoplasia maligna de ovário ocupou oitavo lugar no ranking nacional de mortalidade no Brasil em 2023. É considerada a segunda neoplasia ginecológica mais comum no país, com predominância na pós-menopausa. Caracterizada por ser uma patologia multifatorial, apresenta como principal fator de risco antecedentes familiares de primeiro grau de câncer de ovário e mama, além disso, a idade média de 63 anos, menarca precoce, menopausa tardia, mutação genética dos genes BRCA1 e BRCA2, Síndrome de Lynch, nuliparidade e endometriose. Estudos demonstram que fatores diretamente relacionados à
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Gomes, Marina Macedo, and Kamylle Cynnara Tavares da Silva. "MUTAÇÃO DOS GENES BRCA1 E BRCA2 COMO ETIOLOGIA GENÉTICA DO CÂNCER DE MAMA." In XXVII Semana de Biomedicina Inovação e Ciência. Editora IME, 2021. http://dx.doi.org/10.51161/9786588884119/8.

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Introdução: Tendo em vista que mulheres portadoras de mutações em BRCA1 ou BRCA2 apresentam um risco de câncer de mama ao longo da vida de 50% a 85%,(5) as alterações herdadas desses genes se apresentam como considerável fator de risco para o desenvolvimento dessa categoria de câncer. Logo, a compreensão dessa correlação corresponde a um importante aspecto para o manejo de famílias de alto risco para câncer de mama. Objetivos: O presente trabalho apresenta como objetivo reunir informações relacionadas a presença de mutações nos genes BRCA1 e BRCA2 como etiologia genética do câncer de mama here
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Paixão, Daniele, Giovana Tardin Torrezan, Karina Miranda Santiago, et al. "MULTIGENE PANEL TESTING FOR BREAST CANCER PREDISPOSITION IN BRAZILIAN PATIENTS." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2016.

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Objective: Only 5–10% of breast cancer (BC) is related to inherited genetic variants, and BRCA1 and BRCA2 mutations are responsible for the majority of cases. BRCA1 is more associated with triple-negative and BRCA2 to the luminal subtype. The contribution of other genes of high and moderate risk for BC, such as TP53, STK11, CDH1, PTEN, ATM, CHEK2, and PALB2, are not well defined, and risk estimates to specific BC subtype are lacking, especially for an admixed population like Brazilian. The aim of this study was to evaluate the contribution of the multigene panel in detecting germline mutations
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Oliveira, Leandro Gonçalves, Ana Claudia Gonçalves Lima, Deidimar Cássia Batista Abreu, et al. "BRCA1 AND BRCA2 germline pathogenic variants in Brazilian breast cancer patients from a private oncologic service in Goiânia, Goiás." In Brazilian Breast Cancer Symposium 2024. Mastology, 2024. http://dx.doi.org/10.29289/259453942024v34s1043.

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Objective: The objective of this study was to evaluate the clinical and pathological characteristics of a group of breast cancer (BC) patients presenting germline pathogenic variants (PV) in the BRCA1 and BRCA2 genes. Methodology: This descriptive study was approved by the Research Ethics Committee of PUC Goiás and comprised the retrospective analysis (clinical, genetic, and histopathological) of patients with BC and PV in BRCA1/BRCA2 genes, treated at a tertiary oncologic service. Results: Among 52 patients, 51 were women. The average age for the group was 42.3 years (±11.8 years). An expande
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Brianese, Rafael Canfield, Karina Miranda Santiago, Giovana Tardin Torrezan, et al. "MULTIGENE GERMLINE NGS TESTING IN TRIPLENEGATIVE BREAST CANCER (TNBC)." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2006.

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Objective: Triple-negative breast cancer (TNBC) is a breast cancer subtype strongly associated with BRCA1 germline mutations that are involved in homologous recombination DNA repair deficiency (HRD). Tumors with HRD may benefit from DNA-damage-inducing agents and PARP inhibitors. We aim to characterize germline mutations in HRD-related genes in TNBC and associate them with clinical data. Methods: TNBC patients (n=117) attending the A.C.Camargo Cancer Center had genetic testing performed by NGS (26–127 cancer predisposition gene panels) in leukocyte/saliva DNA. When possible, germline variants
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Ribeiro, Wanderson Alves, and Fábio Augusto DAlegria Tuza. "IMPACTOS E REPERCUSSÕES DO CÂNCER DE MAMA NA AUTOIMAGEM DA MULHER COM CIRURGIA DE MASTECTOMIA BILATERAL." In II Congresso Nacional de Cirurgia Geral. Even3, 2025. https://doi.org/10.29327/9786527211082.1056592.

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Introdução: O câncer de mama está associado a fatores genéticos e ambientais, incluindo mutações nos genes BRCA1 e BRCA2. O tratamento, frequentemente através da mastectomia, traz consequências signif
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Feijão, Maria Clara Tomaz, Fernanda Pimentel Arraes Maia, Mateus Coelho Gondim de Oliveira Lima, Vitória Moreira Soares, and Luiz Gonzaga Porto Pinheiro. "CONCERNING A FAMILY WITH BRCA2 MUTATION." In XXIV Congresso Brasileiro de Mastologia. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s1019.

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Introduction: Breast cancer is the most common malignancy in women and represents a major obstacle to public health worldwide. The molecular diagnosis of this type of cancer is one of the main contemporary challenges in oncology, since it is hampered by a complex inheritance pattern, characterized by both genetic and environmental factors. Only a minority of breast cancers are explained by the presence of high penetrance gene mutations, such as those in the BRCA1 and BRCA2 genes, which together with mutations in intermediate penetrance genes explain only up to 25% of the risk. In fact, much of
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Farias, Stephanie Freire Soares de, Graziela Gama da Conceição Gomes, Biatriz Costa Diniz, CAIO DE BRITO MATOS, and MARCOS VINÍCIUS SOUZA DE ALMEIDA. "GENES RELACIONADOS AO CÂNCER DE MAMA: UM ESTUDO ACERCA DOS ONCOGENES." In I Congresso Nacional de Pesquisas e Estudos Genéticos On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/geneticon/9136.

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Introdução: O câncer de mama é uma patologia relacionada a mutações genéticas, como alterações patológicas em genes como: BRCA 1 e BRCA 2. De acordo com dados do Instituto Nacional do Câncer, no ano de 2022, é estimado 68.280 novos casos, número que representa uma incidência de 43,74 casos por 100 mil individuos do sexo feminino. Objetivo: entender a relação dos genes com o desenvolvimento do câncer de mama. Materiais e Métodos: foi realizado um levantamento bibliográfico nos bancos de dados online NCBI, Scielo e Lilacs, durante o mês de junho de 2022, utilizando as palavras-chaves, isoladas e
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Souto, Andreza Karine de Barros Almeida, Poliana Bergamaschine Giovani Blasi, Brenda Fabiola Delgado Taboada, Fernanda Teresa Lima, Bernardo Garicochea, and Cristiano Augusto Andrade de Resende. "NEUROENDOCRINE CARCINOMA OF THE BREAST AND ILEUM IN A PATIENT WITH BRCA2 PATHOGENIC VARIANT – ONCOLOGIC AND GENETIC CONSIDERATIONS DERIVED FROM A CASE REPORT." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2076.

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Background: Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms. Most frequently, they occur in the digestive system, and breast neuroendocrine tumors constitute less than 1% of all of them. Germline mutations can increase the risk of developing tumors and predispose to hereditary cancer syndromes. Some NENs are well-established components of common hereditary syndromes. Recently, whole genomic sequencing revealed that 17% of apparently sporadic pancreatic NENs carried germline mutations, including DNA repair genes, such as BRCAs. It is well known that this gene plays a role
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Lima, Lara Vento Moreira, MATHEUS PEREIRA VIEIRA, OCTÁVIO AUGUSTO SOARES DIAS, and TIEMI FUKUSHIMA NEVES. "MASTECTOMIA PROFILÁTICA EM MULHERES COM A MUTAÇÃO NOS GENES BRCA1 E BRCA2." In I Congresso Nacional On-line Multidisciplinar de Saúde da Mulher. Revista Multidisciplinar em Saúde, 2023. http://dx.doi.org/10.51161/conasm2023/23661.

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Reports on the topic "BRCA2 Genes"

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Chaudhuri, Gautam. Role of BRCA2 in the Expressions of IRF9-regulated Genes in Human Breast Cells. Defense Technical Information Center, 2009. http://dx.doi.org/10.21236/ada517338.

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Chaudhuri, Gautam. Role of BRCA2 in the Expressions of IRF9-regulated Genes in Human Breast Cells. Defense Technical Information Center, 2010. http://dx.doi.org/10.21236/ada563478.

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Chaudhuri, Gautam. Role of BRCA2 in the Expressions of IRF9-Regulated Genes in Human Breast Cells. Defense Technical Information Center, 2011. http://dx.doi.org/10.21236/ada552893.

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Lee, Cheng-Chi. Cloning Human Chromosome 17 Genes: Candidate Genes for BRCA1. Defense Technical Information Center, 1998. http://dx.doi.org/10.21236/ada361576.

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Lobenhofar, Edward K., and Jeff Marks. Characterization of the Breast Cancer Susceptibility Gene BRCA2. Defense Technical Information Center, 2000. http://dx.doi.org/10.21236/ada395289.

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Wang, Yingcai, and Stuart Aaronson. Functional Analysis of Breast Cancer Susceptibility Gene BRCA2. Defense Technical Information Center, 1999. http://dx.doi.org/10.21236/ada391163.

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Chen, David J. Roles of BRCA2 Gene in Homologous Recombination and Genomic Stability. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada403331.

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Chen, David. Roles of BRCA2 Gene in Homologous Recombination and Genomic Stability. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada410549.

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Chen, David. Roles of BRCA2 Gene in Homologous Recombination and Genomic Stability. Defense Technical Information Center, 2000. http://dx.doi.org/10.21236/ada392353.

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Lynch, Dennis M. Cell Cycle Analysis of the BRCA1 Gene Product. Defense Technical Information Center, 2000. http://dx.doi.org/10.21236/ada405841.

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