Patterns of germline and somatic mutations in 16 genes associated with mismatch repair function or containing tandem repeat sequences.
Shih-Ching ChangYuan-Tzu LanPei-Ching LinShung-Haur YangChien-Hsing LinWen-Yi LiangWei-Shone ChenJeng-Kai JiangJen-Kou LinPublished in: Cancer medicine (2019)
Next-generation sequencing could enhance the detection of familial CRC. The somatic mutation burden might result from not only the affected genes in germline mutations but also through the dysfunction of downstream effectors. The AXIN2 gene might associate with hypermutation in tumors. Further in vitro experiments to confirm the causal relationship is deserved.