22/06/2017 18:00 - 19:00 Sala Gammay ÁREA Temática: Oncogenética Nº do pôster Nº do resumo Área Título Autor principal Gene expression computational analysis of possible biomarker of gastrointestinal Ivaine Taís Sauthier Sartor tumors GENETIC ADVICE IN BREAST CANCER AND / OR OVARIAN: CONTRIBUTIONS OF Vanessa Barreto Nogueira Costa PSYCHOLOGY Genetic alterations detected by comparative genomic hybridization in Paula Silva Felicio BRCAX breast and ovarian cancers of Brazilian population 121 13293 Oncogenética 122 13409 Oncogenética 123 13256 Oncogenética 124 14316 Oncogenética Genetic predisposition of CIITA polymorphisms with Disability progression Fabrícia Lima Fontes-dantas markers in multiple sclerosis patients 125 13308 Oncogenética Identification and analysis of variants in ATM in individuals at risk for hereditary breast cancer 126 13316 Oncogenética IDENTIFICATION OF PATHOGENIC RAD51C MUTATIONIN THE CLEAR CELL RENAL CELL Lauziene Andrade Soares CARCINOMA Oncogenética IDENTIFICATION OF THE POLYMORPHISMS IN THE UPSTREAM REGULATORY REGION 5'URR OF THE HLA-G GENE IN PATIENTS Mari Dalva Staffen WITH BREAST CANCER IN SANTA CATARINA 127 13305 Marina Roberta Scheid 128 13207 Oncogenética 129 13415 Oncogenética 130 13314 Oncogenética 131 13328 Oncogenética Impact of Genetic Counseling and Genetic Testing on High-Risk Hereditary Breast and Natalia Campacci Ovarian Cancer (HBOC) Lipoid Proteinosis: Case Report Malignant neoplasms in patients with Neurofibromatosis type 1: retrospective cases reviews. MICROSSATELLITE INSTABILITY IDENTIFICATION IN A SAMPLE OF ENDOMETRIOID CARCINOMA OF ENDOMETRIUM WITH POSITIVE IMMUNOHISTOCHEMISTRY FOR MLH1, MSH2, MSH6 AND PMS2 Dimas Magalhães da Silva Penine Anna Cláudia Evangelista Dos Santos Victor Evangelista de Faria Ferraz 132 12634 Oncogenética MODULAÇÃO DE GENES DA VIA HORMONAL DE CÉLULAS TUMORAIS DE CÂNCER DE MAMA APÓS TRATAMENTO COM O EXTRATO DE Azadirachta indica. 133 13375 Oncogenética Molecular characterization of colorectal cancer patients diagnosed at young age. Mariana Bianchi Carneiro 134 12642 Oncogenética PCA3 complexes in prostate malignant transformation Matheus Alves Ribeiro 135 13272 Oncogenética POLQ GERMLINE MUTATIONS IN PATIENTS WITH BILATERAL BREAST CANCER: A Tiago Finger Andreis POTENTIAL NEW DIAGNOSTIC MARKER Oncogenética POLYMORPHISMS OF THE UPSTREAM REGULATORY REGION- 5'URR OF THE HLAClisten Fátima Staffen G GENE IN PATIENTS WITH CERVICAL CANCER AND INFECTED BY HPV Oncogenética Prevalence of Pathogenic/Likely Pathogenic and unknown clinical significance variants among 385 patients referred for NGS-based Multigene Hereditary Cancer Panel 136 137 13307 13337 Deisi Lilian Braga Geórgia Fernanda de Oliveira 138 13335 Oncogenética Prevalence of positive findings with the use of a NGS-based RNA and DNA sequencing multigene panel in solid tumors for therapy guidance 139 13339 Oncogenética PROFILE OF KRAS AND NRAS MUTATIONS IN PATIENTS WITH COLORECTAL CANCER: RESULTS OF 1392 CASES Nara Diniz Soares Pessoa Jobson Ferraz Do Nascimento RECOGNIZING HISTORIES: THE KNOWLEDGE OF HEALTH PROFESSIONALS Andréia Stringhetta Pardinho de Almeida ABOUT HEREDITARY CANCER – A preliminary data. STAT3 as promising chemoresistance biomarker associated with CD44+/high/CD24-/low/ALDH+ BCSCs-like Letícia da Conceição Braga subset of triple-negative breast cancer (TNBC) cell line THE INFLUENCE OF A DRD4 GENE POLYMORPHISM ON SUBSTANCE USE DISORDERS AND ATTENTIONMarina Debon DEFICIT/HYPERACTIVITY DISORDER IN ADULTS. 140 13288 Oncogenética 141 13268 Oncogenética 142 12670 Oncogenética 143 13247 Oncogenética 144 13169 Genética Comunitária A TEN-YEAR RETROSPECTIVE ANALYSIS OF THE FEDERAL UNIVERSITY OF SÃO CARLOS’ Debora Gusmao Melo MEDICAL GENETICS CLINIC Genética Comunitária ANÁLISE RETROSPECTIVA DA INCIDÊNCIA DE ANOMALIAS CONGÊNITAS NO MUNICÍPIO DE CHAPECÓ (SC), NO PERÍODO ENTRE 2006 A 2016 Genética Comunitária Can we avoid the confusion between Osteogenesis Imperfecta and physical child Alexandre Mello Savoldi abuse pathological fractures? 145 146 12683 13245 Validation of Digital PCR to identify EGFR somatic mutations of lung cancer Tamyres Mingorance Carvalho Leonardo Barbosa Leiria 147 148 149 150 13389 13384 13349 13406 Genética Comunitária CLINICAL AND EPIDEMIOLOGICAL FINDINGS IN OSTEOGENESIS IMPERFECTA PATIENTS FROM HOSPITAL UNIVERSITÁRIO Lenita Mayumi Ramos Sasaki BETTINA FERRO DE SOUZA, BELÉM – PA, BRAZIL. 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Genética Comunitária ESTUDO DESCRITIVO: FREQUÊNCIA DE MALFORMAÇÃO CONGÊNITA EM PACIENTES ATENDIDOS NO AMBULATÓRIO Cleiton Fantin DE GENÉTICA MÉDICA DA ASSOCIAÇÃO DE PAIS E AMIGOS DOS EXCEPCIONAISDE MANAUS (APAE/MANAUS) Genética Comunitária HEALTH CARE IN ONCOGENETICS AT THE HOSPITAL UNIVERSITÁRIO BETTINA FERRO Maria Eduarda Souza Neves DE SOUZA: ANALYSIS OF THE FIRST FAMILIES. 151 13416 Genética Comunitária MENNONITES IN BRAZIL: ISOLATED COMMUNITIES AS A MODEL FOR INVESTIGATING GENETIC SUSCEPTIBILITY TO COMPLEX DISEASES 152 13289 Genética Comunitária PERFIL DOS PACIENTES COM A SÍNDROME DE CRI-DU-CHAT: LEVANTAMENTO DE 70 Rachel Sayuri Honjo QUESTIONÁRIOS 153 12782 Genética Molecular 154 13350 Genética Molecular A CASE SERIES IN INCONTINENTIA PIGMENTI: GENETIC, CLINICAL AND PEDIGREE FINDINGS A HIGH RESOLUTION MOLECULAR SCREENING METHOD FOR DETECTION OF FRAGILE X SYNDROME IN A GROUP OF PATIENTS WITH AUTISTIC SPECTRUM DISORDERS Luana Caroline Oliveira Luiza Monteavaro Mariath Manuela Genú Carvalho 155 156 157 158 12631 13340 13266 13284 Genética Molecular A USER-FRIENDLY PLATFORM FOR THE ANNOTATION, FILTRATION, AND Murilo Guimarães Borges INTERPRETATION OF SEQUENCE VARIANTS OF CLINICAL SIGNIFICANCE Genética Molecular Ambulatory outcome measures after the initial 48-week period of a long-term, openlabel treatment with ataluren in patients Carolina Sakae Ikuta previously enrolled in ataluren clinical trials for nonsense mutation Duchenne muscular dystrophy (nmDMD) Genética Molecular ANÁLISE DA FREQUÊNCIA DE ALTERAÇÕES SUBMICROSCÓPICAS EM PACIENTES COM ATRASO NO DESENVOLVIMENTO NEUROPSICOMOTOR Deivid Calebe de Souza OU DEFICIÊNCIA INTELECTUAL IDIOPÁTICA AVALIADOS ATRAVÉS DA HIBRIDAÇÃO GENÔMICA EM ARRAY (aGH). Genética Molecular Analysis of Sox2 Expression and its Relationship to the Terminal Differentiation and Hormone Production in Juliana Moreira Silva the Post-Natal Development in Animal Models of Congenital Hypopituitarism. 159 13355 Genética Molecular ASSOCIAÇÃO DOS POLIMORFISMOS GSTT1 nulo E GSTM1 nulo COM A Andreia Santos Miranda SUSCETIBILIDADE AO DIABETES MELLITUS TIPO II 160 12672 Genética Molecular ASSOCIATION ANALYSIS OF COMPLEMENT Valéria Bumiller Bini SYSTEM WITH PEMPHIGUS FOLIACEUS