Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-02

AUTHORS

Clara Esteban-Jurado, Maria Vila-Casadesús, Pilar Garre, Juan José Lozano, Anna Pristoupilova, Sergi Beltran, Jenifer Muñoz, Teresa Ocaña, Francesc Balaguer, Maria López-Cerón, Miriam Cuatrecasas, Sebastià Franch-Expósito, Josep M. Piqué, Antoni Castells, Angel Carracedo, Clara Ruiz-Ponte, Anna Abulí, Xavier Bessa, Montserrat Andreu, Luis Bujanda, Trinidad Caldés, Sergi Castellví-Bel,

ABSTRACT

PURPOSE: Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited cause. The hypothesis of rare high-penetrance mutations in new genes is a likely explanation for the underlying predisposition in some of these familial cases. METHODS: Exome sequencing was performed in 43 patients with colorectal cancer from 29 families with strong disease aggregation without mutations in known hereditary colorectal cancer genes. Data analysis selected only very rare variants (0-0.1%), producing a putative loss of function and located in genes with a role compatible with cancer. Variants in genes previously involved in hereditary colorectal cancer or nearby previous colorectal cancer genome-wide association study hits were also chosen. RESULTS: Twenty-eight final candidate variants were selected and validated by Sanger sequencing. Correct family segregation and somatic studies were used to categorize the most interesting variants in CDKN1B, XRCC4, EPHX1, NFKBIZ, SMARCA4, and BARD1. CONCLUSION: We identified new potential colorectal cancer predisposition variants in genes that have a role in cancer predisposition and are involved in DNA repair and the cell cycle, which supports their putative involvement in germ-line predisposition to this neoplasm. More... »

PAGES

131

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2014.89

DOI

http://dx.doi.org/10.1038/gim.2014.89

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004086821

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25058500


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