克拉斯
子宫内膜癌
大肠腺瘤性息肉病
家族性腺瘤性息肉病
结直肠癌
透视图(图形)
癌症研究
医学
肿瘤科
内科学
生物
癌症
计算机科学
人工智能
作者
Tao Yin,Zhenhua Tan,Li‐Yuan Bai,Haibo Lan,Tianliang Liu
摘要
ABSTRACT Familial adenomatous polyposis (FAP) is a well‐characterized hereditary colorectal cancer syndrome driven by germline mutations in the APC gene. KRAS mutations, although more common in sporadic colorectal and endometrial cancers, are rarely seen concurrently in patients with FAP. This mini‐review summarizes the current understanding of the molecular mechanisms of APC and KRAS mutations in FAP and their rare coexistence in extracolonic malignancies, particularly endometrial cancer. A rare case of a 48‐year‐old female with both FAP and endometrial cancer harboring APC p.G1357Efs*58 and KRAS p.G12V mutations is included to contextualize the clinical relevance.
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