Article
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.
European journal of medical genetics - 1 Feb 2022
Legrand Clémentine, Lebrun Marine, Naïbo Pierre, Peysselon Magalie, Prieur Fabienne, Kientz Caroline, Desseigne Françoise, Handallou Sandrine, Rey Jean-Marc, Nambot Sophie, Goussot Vincent, Hamzaoui Nadim, Wang Qing
Abstract excerpt
The POLD1 gene is involved in DNA proofreading to ensure accurate DNA replication. Some germline alterations in its exonuclease domain are associated with predisposition to cancers and colonic polyps. Only a few pathogenic variants have been clearly identified so far. Here we report a novel variant: c.1458G>T p.(Lys486Asn) that we classified as pathogenic, detected in two putatively unrelated families. The cancer...
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