Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients

Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients

BackgroundGenome instability plays a crucial role in promoting tumor development. Germline mutations in genes responsible for DNA repair are often associated with familial cancer syndromes. A noticeable exception is the CHEK1 gene. Despite its well-established role in homologous recombination, germl...

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Bibliographic Details
Main Authors: Jun Qian, Min Peng, Yanan Li, Wei Liu, Xinwei Zou, Huafei Chen, Sujuan Zhou, Sheng Xiao, Jinhua Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Oncology
Subjects:
CHEK1
germline mutation
splicing error
ovarian cancer
inherited cancer
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2024.1380093/full

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https://www.frontiersin.org/articles/10.3389/fonc.2024.1380093/full

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