Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing

Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing

IntroductionAccurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis and risk assessment. In this report, we characterized an intragenic duplication breakpoint of PALB2 to determine its pathogenicity significance.M...

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Bibliographic Details
Main Authors: Iulian O. Ban, Alice Chabert, Thomas Guignard, Jacques Puechberty, Simon Cabello-Aguilar, Pascal Pujol, Julie A. Vendrell, Jérôme Solassol
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Oncology
Subjects:
PALB2
LGR
breast cancer
long-read sequencing
molecular alteration
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2024.1355715/full

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https://www.frontiersin.org/articles/10.3389/fonc.2024.1355715/full

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