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Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype

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  • Contributors HLC: Histopathologic examination and manuscript preparation; DD: Clinical diagnosis, histopathologic examination, photography, and manuscript preparation; HL: Clinical diagnosis; VS: Clinical diagnosis, genetic counselling, and manuscript preparation; NS: Genetic counselling; KB: Genetic counselling and DNA testing; BC: Treatment, clinical follow-up, and manuscript preparation; PA: Clinical diagnosis, DNA testing and manuscript preparation.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.