[HTML][HTML] Comprehensive constitutional genetic and epigenetic characterization of Lynch-like individuals
E Dámaso, M González-Acosta, G Vargas-Parra… - Cancers, 2020 - mdpi.com
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains
unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR)
deficiency in LLS patients throughout a comprehensive (epi) genetic analysis. One hundred
and fifteen LLS patients harboring MMR-deficient tumors and no germline MMR mutations
were included. Mutational analysis of 26 colorectal cancer (CRC)-associated genes was
performed. Pathogenicity of MMR variants was assessed by splicing and multifactorial …
unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR)
deficiency in LLS patients throughout a comprehensive (epi) genetic analysis. One hundred
and fifteen LLS patients harboring MMR-deficient tumors and no germline MMR mutations
were included. Mutational analysis of 26 colorectal cancer (CRC)-associated genes was
performed. Pathogenicity of MMR variants was assessed by splicing and multifactorial …
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals
M González-Acosta, G Vargas-Parra, M Navarro… - 2020 - scientiasalut.gencat.cat
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains
unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR)
deficiency in LLS patients throughout a comprehensive (epi) genetic analysis. One hundred
and fifteen LLS patients harboring MMR-deficient tumors and no germline MMR mutations
were included. Mutational analysis of 26 colorectal cancer (CRC)-associated genes was
performed. Pathogenicity of MMR variants was assessed by splicing and multifactorial …
unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR)
deficiency in LLS patients throughout a comprehensive (epi) genetic analysis. One hundred
and fifteen LLS patients harboring MMR-deficient tumors and no germline MMR mutations
were included. Mutational analysis of 26 colorectal cancer (CRC)-associated genes was
performed. Pathogenicity of MMR variants was assessed by splicing and multifactorial …
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