TESTES GERMINATIVOS E SOMATICOS EM CANCER DE … Bernardo... · 2sss 2681 2114 of PVs 110% 112%...
Transcript of TESTES GERMINATIVOS E SOMATICOS EM CANCER DE … Bernardo... · 2sss 2681 2114 of PVs 110% 112%...
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TESTES GERMINATIVOS E
SOMATICOS EM CANCER DE
PROSTATA: IMPLICAÇÕES
CLINICAS
BERNARDO GARICOCHEA
COORDENADOR DA UNIDADE DE GENETICA DO GRUPO ONCOCLINICAS
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Conclusões
17,2% dos quase 3700 pacientes com câncer de próstata que fizeram teste genético
tinham mutação germinativa
Apenas metade dessas ocorriam em BRCA1 e BRCA2.
Genes como ATM, CHEK2, MMR e HOXB13 foram responsáveis por 9 a 4,5% dos casos
Muitos genes com mutação germinativa não tem correlação clinica com CaP
37% dos casos não tinham critérios do NCCN para testagem
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Grandes duplicações e deleções na série de 165.000 casos da
Ambry Genetics
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BRCA1, BRCA2 e mortalidade por
câncer de próstata
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Mutações, taxanos e inibidor de sinalização androgênica
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Pacientes tratados com ASI seguidos de taxano (A)
Pacientes tratados com taxano seguido de ASI (B)
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5000 indivíduos com risco genético de câncer de próstata
Uso de 170 SNPs
Homens no grupo de 10% de risco mais elevado da população estudada
serão submetidos a biopsia guiada por US e coleta de outros
biomarcadores
Resultado das biopsias serão correlacionados com o escore genetico
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Paineis somáticos e câncer de
próstata
Pacientes com danos bialelicos em BRCA1 e BRCA2 respondem a
inibidores de PARP do mesmo modo que mutações germinativas ?
Imunoterapia funcionaria em pacientes com MSI –H ou mutações em
genes MMR somáticas ?
Qual o papel de TMB em câncer de próstata ?