在患有MUTYH相关多重症的患者中,首次报告了脑髓母细胞瘤
Marie-Charlotte Villy1,2, Mathilde Warcoin1,3, Mathilde Filser1
1Department of Genetics, Institut Curie, Paris, France.
Neuropathology and applied neurobiology
|July 31, 2023
概括
患有特定DNA修复缺陷的MUTYH相关多重症 (MAP) 患者可能很少患上脑髓母细胞瘤. 这种罕见的癌症表现出与MUTYH缺乏相关的独特突变特征.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 癌症生物学 癌症生物学
- DNA 修复机制的修复机制
背景情况:
- MUTYH DNA糖酶通过基切割修复防止G:C→T:A转变.
- 在MUTYH中发生的生殖系双样性致病变体会导致MUTYH相关的多重症 (MAP),这是一种具有结直肠癌风险的自体相衰退性疾病.
- 在MAP瘤中,G:C→T:A转变的特定突变特征 (SBS36) 呈现.
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