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Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Human mutation - 1 Jan 2022

Sehested Astrid, Meade Julia, Scheie David, Østrup Olga, Bertelsen Birgitte, Misiakou Maria Anna, Sarosiek Tomasz, Kessler Elena, Melchior Linea C, Munch-Petersen Helga Fibiger, Pai Reetesh K, Schmuth Matthias, Gottschling Hendrik, Zschocke Johannes, Gallon Richard, Wimmer Katharina

Abstract excerpt

Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional polymerase proofreading deficiency that typically presents with colorectal adenomas and carcinomas in adulthood. Constitutional mismatch-repair deficiency (CMMRD), caused by germline bi-allelic PVs affecting one of four MMR genes, results in a high propensity for the...

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PMID: 34816535
DOI: 10.1002/humu.24299

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