The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

doi:10.1038/ejhg.2016.44

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Article

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

European journal of human genetics : EJHG - 1 Oct 2016

Esteban-Jurado Clara, Franch-Expósito Sebastià, Muñoz Jenifer, Ocaña Teresa, Carballal Sabela, López-Cerón Maria, Cuatrecasas Miriam, Vila-Casadesús Maria, Lozano Juan José, Serra Enric, Beltran Sergi, Brea-Fernández Alejandro, Ruiz-Ponte Clara, Castells Antoni, Bujanda Luis, Garre Pilar, Caldés Trinidad, Cubiella Joaquín, Balaguer Francesc, Castellví-Bel Sergi

Abstract excerpt

Colorectal cancer (CRC) is one of the most common neoplasms in the world. Fanconi anemia (FA) is a very rare genetic disease causing bone marrow failure, congenital growth abnormalities and cancer predisposition. The comprehensive FA DNA damage repair pathway requires the collaboration of 53 proteins and it is necessary to restore genome integrity by efficiently repairing damaged DNA. A link between FA genes in...

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PMID: 27165003
DOI: 10.1038/ejhg.2016.44
PMCID: PMC5027689

Genes

BRCA2
BRIP1
FANCC
FANCE

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