Ontology highlight
ABSTRACT:
SUBMITTER: Degrolard-Courcet E
PROVIDER: S-EPMC4350595 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Degrolard-Courcet Emilie E Sokolowska Joanna J Padeano Marie-Martine MM Guiu Séverine S Bronner Myriam M Chery Carole C Coron Fanny F Lepage Côme C Chapusot Caroline C Loustalot Catherine C Jouve Jean-Louis JL Hatem Cyril C Ferrant Emmanuelle E Martin Laurent L Coutant Charles C Baurand Amandine A Couillault Gérard G Delignette Alexandra A El Chehadeh Salima S Lizard Sarab S Arnould Laurent L Fumoleau Pierre P Callier Patrick P Mugneret Francine F Philippe Christophe C Frebourg Thierry T Jonveaux Philippe P Faivre Laurence L
European journal of human genetics : EJHG 20131204 8
Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unex ...[more]