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Abstracts from the 58th European Society of Human Genetics (ESHG) Conference: Hybrid Posters

Guardado en:
Udgivet i:European Journal of Human Genetics : EJHG vol. 33 (Nov 2025), p. 508-1221
Udgivet:
Nature Publishing Group
Fag:
European Society of Human Genetics
Italy
Israel
Jerusalem Israel
United Kingdom > UK
Netherlands
Japan
Cancer
DNA methylation
Neural stem cells
Comparative analysis
Genetics
DNA damage
Genetic counseling
Amino acids
Oncology
Genomics
Drug dosages
Proteins
Cohesin
Tumorigenesis
Population genetics
DNA repair
Gene expression
Cerebellum
Algorithms
Tumors
Online adgang:Citation/Abstract
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Resumen:The cohesin complex role in cerebellum development, gene expression regulation, and DNA signaling repair suggest this structure as a possible oncogenic candidate. [...]the in vivo fly model obtained by SA1 silencing, the ortholog of STAG2, was characterized to assess tumor-related phenotypic features by investigating neural precursors differentiation and flies’ viability. Future efforts will focus on developing a classifier based on these insights for integration into routine diagnostics, enabling efficient identification of patients with a predisposition for WT development. P01.005.A Comparative analysis of BRCA pathogenic variant testing: first nation-wide population screening program versus genetic counseling Rachel Michaelson-Cohen1, Ephrat Levy-Lahad2, Ariela Tomer2, Shunit Armon1, Naama Srebnik1, Sari Lieberman3 1Shaare Zedek Medical Center, faculty of Medicine, Hebrew University, Jerusalem, Israel, 2Shaare Zedek Medical Center, Jerusalem, Israel, 3Shaare Zedek Medical Center, faculty of Medicine, Hebrew University, JERUSALEM, Israel.
ISSN:1018-4813
1476-5438
DOI:10.1038/s41431-025-01935-5
Fuente:Health & Medical Collection