Journal article

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

Estela Damaso, Maribel Gonzalez-Acosta, Gardenia Vargas-Parra, Matilde Navarro, Judith Balmana, Teresa Ramon y Cajal, Noemi Tuset, Bryony A Thompson, Fatima Marin, Anna Fernandez, Carolina Gomez, Angela Velasco, Ares Solanes, Silvia Iglesias, Gisela Urgel, Consol Lopez, Jesus del Valle, Olga Campos, Maria Santacana, Xavier Matias-Guiu Show all

Cancers | MDPI | Published : 2020


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 likelihood analyses. Genome-wide methylome analysis was performed by the Infinium Human Methylation 450K Bead Chip. The multigene panel analysis revealed the presence of two MMR gene tru..

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University of Melbourne Researchers


Awarded by FEDER funds -a way to build Europe

Awarded by Spanish Association Against Cancer (AECC)

Awarded by Government of Catalonia

Awarded by Fundacion Mutua Madrilena

Awarded by Catalonian Health Department

Awarded by RTICC Network

Funding Acknowledgements

This work was funded by the Spanish Ministry of Economy and Competitiveness and cofunded by FEDER funds -a way to build Europe-(grants SAF2012-33636, SAF2015-68016-R and SAF2016-80888-R), CIBERONC, RTICC Network (RD12/0036/0031 and RD12/0036/0008), the Spanish Association Against Cancer (AECC) (080253), the Government of Catalonia (grant 2014SGR338, 2017SGR1282 and PERIS SLT002/16/0037), Fundacion Mutua Madrilena (grant AP114252013). We thank CERCA Programme for institutional support. ED was supported by a grant from the Spanish Ministry of Economy and Competitiveness. The AECC fellowship to MG-A. AF was supported by a grant from the Catalonian Health Department (SLT002/16/00409). FM was supported by CIBERONC. The Mexican National Council for Science and Technology (CONACyT) fellowship to GV.