林奇综合征通常由错配修复基因(如 MLH1、MSH2、MSH6 和 PMS2)的突变引起。这些基因负责在细胞分裂过程中修复 DNA 损伤。 林奇综合征主要与结直肠癌和子宫内膜癌的高风险相关。在林奇综合征患者中,肾上腺皮质癌病例相对较少。
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