Abstract
The underlying mechanism of CCS has been less investigated, with only one whole exome sequencing (WES) study that identified a protein kinase DNA-activated catalytic subunit (PRKDC) DNA variant that might contribute to the pathogenesis. See PDF] The coexistence of complex cancer history and CCS made this patient an interesting rare case. [...]WES analysis was considered to explore whether some germline mutations may account for the susceptibility to CCS and concurrent malignancies. [...]we described a case of CCS who was complicated with colonic adenocarcinoma, seminoma, and small cell lung cancer.
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1 Department of Gastroenterology, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing 100730, China; School of Clinical Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing 100730, China
2 Department of Pathology, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing 100730, China
3 Department of Gastroenterology, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing 100730, China