Associated Papers
Identification of a novel variant in MLH1 intron causing aberrant splicing associated with Lynch syndrome.
Liu AX et al.
Gastroenterology Report, 2025
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Isidro RA et al.
Frontiers in Oncology, 2023
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA et al.
Familial Cancer, 2020
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Haraldsdottir S et al.
Gastroenterology, 2014
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