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Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low‐resource settings

30 May 2020

Abstract excerpt

Germline biallelic mutations in one of the mismatch repair genes, mutS homolog 2, mutS homolog 6, mutL homolog 1, or postmeiotic segregation increased 2, result in one of the most aggressive cancer syndromes in humans termed as constitutional mismatch repair deficiency (CMMRD). Individuals with CMMRD are affected with multiple tumors arising from multiple organs during childhood, and these individuals rarely...

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PMID: 32472748
DOI: 10.1002/pbc.28309

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