摘要
The two most common inherited forms of colorectal cancer(CRC)are familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer.They are caused by germline mutations in the APC and mismatch repair genes,respectively.1 The simultaneous inheritance of both an APC gene mutation and a mismatch repair gene mutation is very rare.In this study,we reported a coinheritance of mutations in the APC and MLH1 genes in a 20-year-old patient with CRC and multiple polyposes.We described for the first time the somatic mutational profile of a colorectal tumor harboring concurrent germline mutations in the APC and MLH1 genes.
基金
supported by the Key Research and Development Program of Anhui Province,China(No.2022e07020048)
the Clinical Research Incubation Program of The Second Hospital of Anhui Medical University,China(No.2020LCZD07)
the National Natural Science Foundation of China(No.81872438)
the Program of Research and Development of Key Common Technologies and Engineering of Major Scientific and Technological Achievements in Hefei,China(No.2021YL007)
the Collaborative Innovation Program of Hefei Science Center CAS(China)(No.2022HSC-CIP015).
