Genética

Riscos de outros tipos de câncer, além dos cânceres de mama e de ovário, associados às variantes patogênicas BRCA1 e BRCA2.

3 Mar, 2022 | 15:45h

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants – Journal of Clinical Oncology

Comentário: Faulty BRCA genes linked to prostate and pancreatic cancers – University of Cambridge

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Fatores (epi)genéticos predisponentes foram encontrados em 1/3 das crianças diagnosticadas com tumor de Wilms.

3 Mar, 2022 | 15:37h

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization – Journal of Clinical Oncology

Comentário: One third of children with a kidney tumor has hereditary predisposition – Princess Máxima Center for pediatric oncology in Utrecht

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Estudo de coorte | Escore de risco poligênico pode melhorar a estratificação de risco de doença arterial coronariana.

28 Fev, 2022 | 13:32h

A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study – European Heart Journal

Editorial: Polygenic risk score: a tool ready for clinical use?

Conteúdos relacionados:

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.

Studies: Little Benefit from Polygenic Risk Score vs. Clinical Risk Score for Predicting Cardiovascular Risk

Perspective: The Approach to Predictive Medicine that is Taking Genomics Research by Storm

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Revisão | CRISPR na biologia e na terapia do câncer.

28 Fev, 2022 | 13:28h

CRISPR in cancer biology and therapy – Nature Reviews Cancer (se o acesso a este link for pago, tente este)

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Opinião clínica provisória ASCO | Teste genômico somático em pacientes com câncer avançado ou metastático.

22 Fev, 2022 | 14:40h

Somatic Genomic Testing in Patients With Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion – Journal of Clinical Oncology

Comunicado de imprensa: ASCO Provisional Clinical Opinion Offers Guidance for Using and Interpreting Genomic Testing in Patients With Advanced Cancer – ASCO Daily News

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Como a COVID-19 transformou a genômica e mudou para sempre o tratamento de surtos de doenças.

17 Fev, 2022 | 15:24h

How COVID-19 transformed genomics and changed the handling of disease outbreaks forever – The Conversation

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Terapia genética com betibeglogene autotemcel para betatalassemia não-beta-0/beta-0.

14 Fev, 2022 | 15:39h

Betibeglogene Autotemcel Gene Therapy for Non–β⁰/β⁰ Genotype β-Thalassemia – New England Journal of Medicine (link para o resumo – $ para o texto completo)

 

Comentário no Twitter

Visual Abstract: Betibeglogene Autotemcel Gene Therapy for Non–β0/β0 Genotype β-Thalassemia. https://t.co/2GOCGxrruv pic.twitter.com/zLvuuuByXN

— NEJM (@NEJM) February 8, 2022

 

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Estudo mostra que provavelmente há uma alta taxa de subdiagnóstico da síndrome do X frágil na população geral.

4 Fev, 2022 | 16:23h

Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems – JAMA Network Open

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Opinião | “O uso de escores de risco poligênico em testes de pré-implantação genética: uma prática não provada e antiética.”

28 Jan, 2022 | 15:27h

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice – European Journal of Human Genetics

Comentário: ‘Unproven and unethical’: experts warn against genetic embryo tests – The Guardian

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Revisão | Características genotípicas e fenotípicas do câncer colorretal hereditário.

28 Jan, 2022 | 15:04h

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer – Annals of Coloproctology

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