全球发生率为10%的结直肠癌存在多个参与其发生的途径。 WNT信号转导通过APC基因成为首要的底层途径，而缺陷不匹配修复基因和表观遗传变化也被认为是贡献因素。在这里，我们报告了一个女性矩形腺癌的罕见病例，其具有胚系MSH6和PMS1突变，同时还有体细胞APC和TP53突变，并接受了手术和辅助性卡培他滨治疗。该病例具有独特性，表明这两个途径之间可能存在相互作用，并为该患者的癌发生做出了贡献。这也表明有必要对特定的结直肠癌患者进行彻底的胚系和体细胞突变评估，以指导个体化治疗。© 2023. BioMed Central Ltd., Springer Nature的一部分。

Colorectal cancer with a global incidence of 10% has multiple pathways implicated in its carcinogenesis. WNT signaling is the principal underlying pathway via APC gene, while defective mismatch repair genes and epigenetic changes also are known to contribute.Here, we present an unusual case of rectal adenocarcinoma in a woman, with germline MSH6 and PMS1 mutations, and simultaneous somatic APC and TP53 mutations treated with surgery and adjuvant capecitabine.The case is unique suggesting a possible interaction between the two pathways and contributing to carcinogenesis in this patient. This also suggests need for a thorough germline and somatic mutation evaluation in select colorectal cancer patients to direct a tailored therapy.© 2023. BioMed Central Ltd., part of Springer Nature.