CHARACTERIZATION OF CDK7 GENE VARIANTS ASSOCIATED WITH CANCER IN AMERINDIANS OF THE BRAZILIAN AMAZON

  • Author
  • Amanda de Nazaré Cohen-Paes
  • Co-authors
  • Darlen Cardoso de Carvalho , Elisa da Silva Meneses , Kezia Nascimento Góes , Débora Monteiro Carneiro do Vale , Diego Di Felipe Ávila Alcântara , Marianne Rodrigues Fernandes , João Farias Guerreiro , Rommel Mario Rodriguez Burbano , Ney Pereira Carneiro dos Santos
  • Abstract
  • Introduction: Cyclin-dependent kinase 7 (CDK7) is frequently overexpressed in various malignancies due to its crucial role in transcription regulation and cell cycle progression. Moreover, CDK7 has emerged as a promising therapeutic target in cancer treatment. Amerindian populations from the Brazilian Amazon possess a distinct genetic profile characterized by low genetic diversity compared to other continental populations. Investigating these populations not only enhances our understanding of human population genetics but also contributes to the development of more precise diagnostic and therapeutic strategies, improving clinical outcomes for underrepresented groups. Objectives: This study aimed to characterize four CDK7 gene variants —rs2972388, rs12657418, rs2291519, and rs2972367— in an Amazonian Amerindian cohort and to compare their frequencies with those of global populations using data from the Genome Aggregation Database (gnomAD). Methods: The study was approved by the National Committee for Ethics in Research (CAAE: 20654313.6.0000.5172). The cohort consisted of 64 Amerindian individuals from the Brazilian Amazon (referred to as NAT). Genomic DNA was extracted from peripheral blood using the phenol-chloroform method. Whole-exome sequencing was conducted on the Illumina NextSeq500® platform. Variant frequencies in the NAT group were compared to those in five continental populations from gnomAD: African (AFR, n=8,128), European non-Finnish (EUR, n=56,885), American (AMR, n=17,296), East Asian (EAS, n=9,197), and South Asian (SAS, n=15,308). Statistical analyses were performed using R Studio version 3.5.1. Results: This is the first study to describe CDK7 variants in Amazonian Amerindians. Our data also details the chromosomal location, alleles, mutation type and effect, and frequency of each variant in both the NAT population and comparative continental groups. Notably, rs2972388 showed a significantly different distribution in NAT compared to AFR, being more frequent in the African population (p<0.001). However, its frequency in the Amerindian group (0.694) was the highest among all continental populations studied. This variant has been previously associated with increased risk for Differentiated Thyroid Cancer (DTC), which accounts for over 80% of thyroid cancer cases and exhibits high incidence rates in Brazil. Conclusion: Understanding the prevalence of CDK7 variants such as rs2972388 in Amerindian populations is essential for shaping public health strategies, including cancer screening and prevention, especially in genetically admixed populations like those in Brazil.

     

  • Keywords
  • CDK7; Amerindian populations; cancer susceptibility.
  • Modality
  • Pôster
  • Subject Area
  • Molecular Studies
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It is with great enthusiasm that we present the Annals of the Oncology International Symposium 2025, an event that continues to solidify its significance in the oncology landscape of northern Brazil. Held in Belém, Pará, Oncology 2025 centered around the theme "The cancer control challenge: better knowing it to best facing it," dedicating itself to exploring the latest frontiers in cancer treatment and prevention.

This year, the symposium provided a deep dive into the essential role of knowledge in the fight against cancer, presenting new perspectives and scientific advancements across various areas of oncology. Renowned global experts gathered to share their most recent research and innovative approaches, offering participants a comprehensive view of the challenges faced by healthcare professionals and patients worldwide.

Presentations and discussions during the event focused on critical topics such as the use of new technologies, advancements in personalized therapies, and more effective prevention strategies. Additionally, particular attention was given to the unique challenges faced by the Amazon region, with efforts aimed at developing region-specific solutions to meet local needs.

Beyond being a high-caliber academic event, Oncology 2025 stood out as a moment for integration and professional networking, with the warm hospitality of the city of Belém offering participants a unique experience. This event became a platform for exchanging ideas, where science, culture, and humanity came together in pursuit of a common goal: to improve cancer control both in Brazil and globally.

This collection of abstracts and articles presented during the event reflects the ongoing dedication to research and the development of innovative solutions, highlighting the importance of collaboration and shared knowledge in the fight against cancer.

General Submission Guidelines:

The presenting author, who does not have to be the first author, must be registered for Oncology 2025.
Each abstract may have up to 10 authors, including the main author and co-authors.
Only original, unpublished work will be accepted.
Submissions must be related to oncology. However, project descriptions, work proposals, experience reports, and literature reviews will not be considered.
Clinical case reports are allowed, provided the abstract addresses scientific questions, details clinical observations, and includes primary scientific data.
The abstract must be written in English, but presentations may be given in Portuguese.
Abstracts must be between 300 and 500 words.

  • Molecular Studies
  • Experimental Research or Clinical Research
  • Case Report or Epidemiology
  • Others

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See Annals of Oncology 2023 at:

https://www.even3.com.br/anais/oncology-2023-international-symposium/