Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome

Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome

Germline variations in the DNA polymerase genes, POLE and POLD1, can lead to a hereditary cancer syndrome that is characterized by frequent gastrointestinal polyposis and multiple primary malignant tumors. However, because of its rare occurrence, this disorder has not been extensively studied. In th...

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Bibliographic Details
Main Authors: Ying Zhang, Xiaolu Wang, Yuning Zhu, Chong Liang, Lijun Zhao, Qi Meng, Jiani C. Yin, Yuqian Shi, Fufeng Wang, Feng Qin, Ji Xuan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Oncology
Subjects:
NGS
POLD1
POLE
germline POLD1 L606M
polyposis syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1222873/full

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