A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

(2011) Chantal Stoepker et al.   NATURE GENETICS

PALB2/FANCN: Recombining Cancer and Fanconi Anemia

(2010) M. Tischkowitz et al.   CANCER RESEARCH

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

(2010) Fiona Vaz et al.   NATURE GENETICS

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination

(2010) Rémi Buisson et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Susceptibility Pathways in Fanconi's Anemia and Breast Cancer

(2010) Alan D. D'Andrea   NEW ENGLAND JOURNAL OF MEDICINE

How the Fanconi Anemia Pathway Guards the Genome

(2009) George-Lucian Moldovan et al.   Annual Review of Genetics

Functional redundancy of exon 12 ofBRCA2revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

(2009) Lili Li et al.   HUMAN MUTATION

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

(2009) Suhwan Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

(2008) D. J. Farrugia et al.   CANCER RESEARCH

Mouse embryonic stem cell–based functional assay to evaluate mutations in BRCA2

(2008) Sergey G Kuznetsov et al.   NATURE MEDICINE