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Article

NTHL1 Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?

International journal of molecular sciences - 26 Sept 2023

Grot Natalia, Kaczmarek-Ryś Marta, Lis-Tanaś Emilia, Kryszczyńska Alicja, Nowakowska Dorota, Jakubiuk-Tomaszuk Anna, Paszkowski Jacek, Banasiewicz Tomasz, Hryhorowicz Szymon, Pławski Andrzej

Abstract excerpt

Multiple polyposes are heterogeneous diseases with different underlying molecular backgrounds, sharing a common symptom: the presence of transforming into cancerous intestinal polyps. Recent reports have indicated biallelic mutations in the NTHL1 gene, which is involved in base excision repair (BER), as predisposing to an elevated risk of colorectal cancer (CRC). We aimed to evaluate the significance of the...

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PMID: 37834005
DOI: 10.3390/ijms241914548
PMCID: PMC10572874

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