Content area

Abstract

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.

Details

Company / organization
Title
Abstracts from the 58th European Society of Human Genetics (ESHG) Conference: Hybrid Posters
Volume
33
Source details
Abstracts from the 58th European Society of Human Genetics (ESHG) Conference
Pages
508-1220
Number of pages
714
Publication year
2025
Publication date
Nov 2025
Section
Abstracts Collection
Publisher
Nature Publishing Group
Place of publication
Leiden
Country of publication
United States
Publication subject
ISSN
10184813
e-ISSN
14765438
Source type
Scholarly Journal
Language of publication
English
Document type
Journal Article
Publication history
 
 
Online publication date
2025-11-04
Milestone dates
2025-09-03 (Registration)
Publication history
 
 
   First posting date
04 Nov 2025
ProQuest document ID
3268550646
Document URL
https://www.proquest.com/scholarly-journals/abstracts-58-sup-th-european-society-human/docview/3268550646/se-2?accountid=208611
Copyright
© The Author(s), under exclusive licence to European Society of Human Genetics 2025
Last updated
2025-11-05
Database
ProQuest One Academic