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Article

MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.

Scientific reports - 1 Nov 2023

Wiik Mariann Unhjem, Negline Mia, Beisvåg Vidar, Clapham Matthew, Holliday Elizabeth, Dueñas Nuria, Brunet Joan, Pineda Marta, Bonifaci Nuria, Aretz Stefan, Klinkhammer Hannah, Spier Isabel, Perne Claudia, Mayr Andreas, Valle Laura, Lubinski Jan, Sjursen Wenche, Scott Rodney J, Talseth-Palmer Bente A

Abstract excerpt

Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes or the EPCAM gene, leading to a less functional DNA MMR system. Individuals diagnosed with LS (LS individuals) have a 10-80% lifetime risk of developing cancer. However, there is considerable...

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Identifiers

PMID: 37914736
DOI: 10.1038/s41598-023-44120-8
PMCID: PMC10620134

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