Germline MLH1 and MSH6 mutations from two Lynch syndrome families identified in a patient with early-onset of endometrial cancer: A case report

Introduction: Lynch syndrome is caused by a germline mutation in mismatch repair (MMR) genes, leading to the loss of expression of MMR heterodimers, either MLH1/PMS2 or MSH2/MSH6, or isolated loss of PMS2 or MSH6. Concurrent loss of both heterodimers is uncommon, and patients carrying pathogenic var...

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主要な著者:	Yi-Ching Huang, Peng-Chan Lin, Pei-Ying Wu, Nai-Syuan Chen, Meng-Ru Shen, Yu-Min Yeh, Ya-Min Cheng
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2024-06-01
シリーズ:	Gynecologic Oncology Reports
主題:	Lynch syndrome Endometrial cancer Colorectal cancer DNA mismatch repair MLH1 MSH6
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2352578924000602
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