Erika Santos, RN, MSc, PhD

Enfermeira, Especialista em Enf em Genética e Genômica. Especialista em Saúde Integrativa e Acupuntura.

[JAMES WEBB @jameswebb_nasa]

🧬🇧🇷 THREAD | O DNA do Brasil foi decifrado.

E ele revela um país muito mais profundo, desigual e surpreendente do que imaginávamos.

Um estudo inédito mapeou o genoma completo de 2.723 brasileiros.

Spoiler: somos o povo com o mais alto grau de diversidade genética recente no mundo.

Acompanhe: 🧶👇

[Erman Akkus @Erman_Akkus]

📖Germline Genetic Testing Panels in Patients With Cancer

✅A must-read @ASCO Guideline and Clinical Insights

👉https://t.co/kraFcpGcOS
👉https://t.co/8zydGl2QfR

@JCO_ASCO @JCOPO_ASCO @JCOOP_ASCO @TheACMG @DrDubardGault @NCIEpiTraining @brunolarvol @Larvol @OncoAlert
#cancer #oncology #genetics #MedX

[Yakup Ergün @dr_yakupergun]

A valuable retrospective study on PD-L1 alteration after NAC in TNBC

🔹️22% of pts with residual tumors showed alteration in PD-L1

🔹️Almost all of these alterations were negative to positive changes

🔹️Platinum use associated with increased PD-L1

💥PD-L1 positivity after NAC associated with better RFS

@OncoAlert
https://t.co/ugNSltUSG0

[Yakup Ergün @dr_yakupergun]

Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline

Who, when and which genetic test?

@OncoAlert
https://t.co/BZoqiYZoEF

[Immune Regulation News @Immune_News]

Weekend review double feature! ✌️

Investigators outline #CRISPR screens resources that might facilitate the development and implementation of cancer #immunotherapies in the clinic.

https://t.co/Oj1YS9a6wC

[Hao Yin @HaoYin20]

Long non-coding RNAs: definitions, functions, challenges and recommendations

3 categories non-coding RNAs
1⃣<50 nt
small RNA
2⃣50-500 nt
PolIII/PolV transcripts, PolII small transcripts (snRNA snoRNA [miRNA?])
3⃣>500 nt
#LncRNA
🧐

@NatRevMCB 2024
https://t.co/iG7gi9wRTf

[Nature Reviews Disease Primers @DiseasePrimers]

The inheritance of #PCOS likely involves genetic, environmental and epigenetic factors https://t.co/wUlyWBG5Pk

[Immune Regulation News @Immune_News]

🔎 In a recent review, scientists explore the dynamic interactions among T and B cell subpopulations of varying phenotypes that contribute to the structural and functional diversity of tertiary #lymphoid structures.

https://t.co/vpZho64ylk

[Christoph Burch @ChristophBurch]

Mechanisms linking sedentary behavior with chronic disease risk factors…
https://t.co/yeHGUQJMJA

[Bartomeu Colom @Bartomeu_Colom]

'Genetic variation across and within individuals'
https://t.co/OvmTbEmwby

[Carlos Minc @minc_rj]

Incrível, lindo!
Naveguem neste mar das artes plásticas transformadas.
Creio ser IA. Muito bem feito.
Obras famosas, O Grito, Guernica, Dali, Chagal, Van Gogh vão surgindo de dentro das outras. É expressionante!
Curtam, comentem.
Nada substitui museus e os livros de arte, mas...

[Eric Topol @EricTopol]

A brilliant review on the wealth of biomarkers for cancer and how they are enabling individualized treatment, improving prognosis
https://t.co/DCmY95W8np by @APassaroMD @peters_solange and colleagues @CellCellPress

[Genetics in Medicine @GIMJournal]

Insights of #cancer burden from a large retrospective study: patients with double pathogenic variants in cancer predisposition genes showed greater burden than those with single gene variants https://t.co/EkRtw2VYI6 @DrHQRana #GIMO #MultiplePathogenicVariants #BreastCancer

[Eric Topol @EricTopol]

A comprehensive 5★ perspective/review on cancer as a complex, systemic disease with all the hallmarks https://t.co/tV5VPHBmHA @CellCellPress by @CharlesSwanton and colleagues

[Genetics in Medicine @GIMJournal]

Biallelic CHEK2 variants and increased risk of multiple primary malignancies - What are the implications for risk management guidelines? https://t.co/lEoSjVbfth #cancerpredisposition #cancergenetics @RMdeVoer

[Hans Fredrik Sunde @hfsunde]

Today, I’m proud to say, our new paper on assortative mating was published in @NatureComms. (Link: https://t.co/ZHy3tVoVC3). Here are our key findings 🧵:

[Nature Reviews Disease Primers @DiseasePrimers]

Epilepsy is the third leading contributor to the global burden of disease for neurological disorders and affects 65 million people worldwide.

#PurpleDay #EpilepsyAwareness
https://t.co/dSWgEn3UU8

[Genetics in Medicine @GIMJournal]

One test to rule them all: Clinical #GenomeSequencing has superior sensitivity for CNVs and detection of multiple variant types including aneuploidies, mobile element insertions, and #UniparentalDisomy https://t.co/4KOp8C4ykQ

[Genetics in Medicine @GIMJournal]

New #EditorsChoice: Genome-wide sequencing such as exome sequencing (ES) or genome sequencing (GS) may be more effective (and cost less!) than conventional diagnostic pathways in diagnosing children with neurodevelopmental disorders https://t.co/l9IiXq5BWI