Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer

先天性错配修复缺陷:结肠癌中一种常被误解的突变案例

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Abstract

It is estimated that 153,020 cases of CRC per year, with an increase in diagnoses in younger patients. We present a case of a female with an early presentation of Lynch Syndrome and CRC, who, on her third malignant presentation, was re-diagnosed as a constitutional mismatch repair deficiency.

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