Un conjunto de 36 proteínas plasmáticas se asociaron con riesgo inminente de diagnóstico de cáncer de pulmón. Entre ellas, factores de crecimiento (HGF, IGFBP-1, IGFP-2), citocinas (TNFRSF6B, TNFRSF13B) y quimiocinas (CXL17), según The Lung Cancer Cohort Consortium. The blood proteome of imminent lung cancer diagnosis. Nature Communications, 2023;14:3042.
– Genomics in Clinical Practice
– Personalized medicine is having its day
– Genomic–transcriptomic evolution in lung cancer and metastasis
– Genomic profiling to expand precision cancer medicine in the real world: The ROME trial
– On the gene expression landscape of cancer
– Precision Medicine in Type 1 Diabetes
– 2023 Watch List: Top 10 Precision Medicine Technologies and Issues
Filed under Cáncer, Genómica, Medicina personalizada, Transcriptómica by on . Comment.
– Blood-Based mRNA Tests as Emerging Diagnostic Tools for Personalised Medicine in Breast Cancer
– Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
– The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy
– Systematic assessment of prognostic molecular features across cancers
– Landscape of pathogenic mutations in premature ovarian insufficiency
– Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children’s Oncology Group
– Exome/Genome Sequencing in Undiagnosed Syndromes
– Precision Medicine and the future of Cardiovascular Diseases: A Clinically Oriented Comprehensive Review
Filed under Cáncer, Cardiopatías, Diagnóstico by on . Comment.
El uso de ensayos diagnósticos para el uso efectivo y seguro de la terapia oncológica es un área en expansión, a partir del uso de las tecnologías ómicas. El tema es abordado en Schilsky RL, Longo DL. Closing the Gap in Cancer Genomic Testing. N Engl J Med, 2022; 387:2107-2110.
Filed under Cáncer, Diagnóstico by on . Comment.
– Integrating genome-wide polygenic risk scores and non-genetic risk to predict colorectal cancer diagnosis using UK Biobank data: population based cohort study. BMJ 2022;379:e071707.
– Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies. J. Pers. Med. 2022;12(12), 2040.
Filed under Cáncer, Diagnóstico, Genómica by on . Comment.
La presencia de hongos en muestras diversas de 17 tipos de tumores malignos, su influencia en las respuestas inmunes y el sinergismo con las bacterias locales, podrían significar nuevos caminos en la patogenia y la atención al cáncer. Así se comenta en Narunsky-Haziza L, Sepich-Poore GD, Livyatan I, Asraf O, Martino C, Nejman D, et al. Pan-cancer analyses reveal cancer-type-specific fungal ecologies and bacteriome interactions. Cell, 2022;185(20):3789-3806.e17.
Filed under Cáncer, Microbioma by on . Comment.
– Detection and localization of early- and late-stage cancers using platelet RNA. Cancer Cell, 2022;40(9):999-1009.e6.
– Clinical Utility of Universal Germline Genetic Testing for Patients With Breast Cancer. JAMA Netw Open. 2022;5(9):e2232787.
Filed under Cáncer, Diagnóstico, Transcriptómica by on . Comment.
La presencia de segmentos mitocondriales en el ADN nuclear fue detectada tanto en recién nacidos como en tumores malignos, con al menos una probable asociación causal en un tipo de liposarcoma. Los hallazgos son presentados en Wei W, Schon KR, Elgar G, Orioli A, Tanguy M, Giess A, et al. Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes. Nature, 2022;611:105–114.
Filed under Cáncer, Diagnóstico, Genómica by on . Comment.
– Developing a classification of hematologic neoplasms in the era of precision medicine. Blood, 2022;140(11):1193–1199.
– Genomic Profiling for Clinical Decision Making in Myeloid Neoplasms and Acute Leukemia. Blood, 2022; blood.2022015853.
– Single Cell Genomics – a new chapter in how technological advances propel Hemato-Oncology. Blood. 2022 Sep 14;blood.2022017361.
– Whole-genome and transcriptome analysis enhances precision cancer treatment options. Annals of Oncology, September 2022;33(9):939-949.
Filed under Cáncer, Diagnóstico, Genómica, Medicina personalizada, Transcriptómica, Tratamientos by on . Comment.
Las aplicaciones de la genómica unicelular (del inglés single-cell genomics) en el diagnóstico y tratamiento de las enfermedades genéticas, el cáncer, la anotación del genoma no codificante y la definición de prioridades para las variantes, son discutidas en Sreenivasan VKA, Balachandran S, Spielmann M. The role of single-cell genomics in human genetics. J Med Genet. 2022 Sep;59(9):827-839.
Filed under Cáncer, Diagnóstico, Genómica, Polimorfismos by on . Comment.