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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
TLDR
In index cases from 1,100 German families with gynecological malignancies, the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog is provided and support the 'common disease, rare allele' hypothesis. Expand
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
TLDR
It is demonstrated that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to bIALlelic BRCA2 mutations, confer a high risk of childhood cancer. Expand
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
TLDR
Using genetic linkage analysis, it is found that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Expand
Mutation of the RAD51C gene in a Fanconi anemia–like disorder
TLDR
Biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome because of loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Expand
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
TLDR
Using genetic mapping, mutation identification and western-blot data, it is identified the defective protein in FA-J cells as BRIP1, a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1. Expand
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
TLDR
Depending on the type of ERCC4 mutation and the resulting balance between both DNA repair activities, individuals present with one of the three clinically distinct disorders, highlighting the multifunctional nature of the XPF endonuclease in genome stability and human disease. Expand
A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.
TLDR
Yeast orthologs of these proteins function together to resist MMS-induced DNA damage and promote gene conversion at blocked replication forks, and FANCM-MHF is an essential DNA-remodeling complex that protects replication forks from yeast to human. Expand
The Fanconi anaemia group G gene FANCG is identical with XRCC9
TLDR
The gene was identified as human XRCC9, a gene which has been shown to complement the MMC-sensitive Chinese hamster mutant UV40, and is suspected to be involved in DNA post-replication repair or cell cycle checkpoint control. Expand
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
TLDR
These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway. Expand
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
TLDR
A patient previously diagnosed as probably having NBS, with microcephaly, mental retardation, 'bird-like' face, and short stature is reported on, finding that she is compound heterozygous for mutations in the RAD50 gene that give rise to low levels of unstable RAD50 protein. Expand
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