Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer.
King CEdwards HThompson EAbdelmasseh MCuaranta APacioles AJuan Ramon SanabriaPublished in: Clinical journal of gastroenterology (2024)
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.