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Article

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Molecular genetics & genomic medicine - 1 Nov 2024

Frederiksen Jane Hübertz, Birkedal Ulf, Bachmann Sarah, Eliesen Elisabeth Victoria, Rasmussen Lene Juel, Pedersen Katja Venborg, Al-Zehhawi Lana, Boonen Susanne E, Krogh Lotte, Rønlund Karina, Graversen Lise, Assenholt Jannie, Schmiegelow Kjeld, Wadt Karin, Gerdes Anne-Marie, Hansen Thomas V O

Abstract excerpt

BACKGROUND: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.(Cys233del) and c.1919C > G, p.(Pro640Arg), in Danish families with numerous occurrences of CRC. METHODS: To reclassify the variants we collected clinical data, initiated tumor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39548353
DOI: 10.1002/mgg3.70026
PMCID: PMC11567815

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