Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients

• DOI: 10.3389/fonc.2024.1380093
• Publication Date: 2024-04-15T04:17:28Z
• Authors: Jun Qian; Min Peng; Yanan Li; Wei Liu; Xinwei Zou; Huafei Chen; Sujuan Zhou; Sheng Xiao; Jinhua Zhou
• Keywords: Penetrance

Background Genome instability plays a crucial role in promoting tumor development. Germline mutations genes responsible for DNA repair are often associated with familial cancer syndromes. A noticeable exception is the CHEK1 gene. Despite its well-established homologous recombination, germline rarely reported. Case presentation In this report, we present patient diagnosed ovarian clear cell carcinoma who has family history of cancer. Her relatives include grandfather esophageal cancer, father gastric and an uncle brain tumor. The carried typical genomic profile including KRAS , PPP2R1A PIK3R1 . Importantly, her paired peripheral blood cells harbored mutation, exon 6 c.613 + 2T>C which was also found father. Unfortunately, status remains unknown due to unavailability their specimens. Further evaluation via RT-PCR confirmed splicing error gene, resulting truncation at kinase domain region, indicative loss-of-function mutation. Conclusion This case highlights rare mutation within mRNA level underscores functional consequences Documenting such cases vital future inheritance patterns, clinical penetrance association specific types.