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.
Keywords:
Colorectal cancer; HNPCC; Lynch syndrome; Mismatch repair.
© 2024. The Author(s).
MeSH terms
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Brain Neoplasms
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Colonic Neoplasms / genetics
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Colorectal Neoplasms / genetics
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Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
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Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
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DNA Mismatch Repair / genetics
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Diagnostic Errors
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Female
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Humans
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Middle Aged
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MutL Protein Homolog 1 / deficiency
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MutL Protein Homolog 1 / genetics
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Mutation
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Neoplastic Syndromes, Hereditary / genetics