Marcel Freund

TL;DR: 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.

TL;DR: 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.

TL;DR: 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.

TL;DR: A FANCD2 protein sequence–based homology search facilitated the discovery of FANCI, a second monoubiquitinated component of the FA pathway, which is regulated by the nuclear FA core ubiquitin ligase complex.

TL;DR: In this paper, the effects of missense mutants of the PALB2 WD40 domain that have been reported in breast cancer patients have been characterized, and the results suggest that three different cancer susceptibility and Fanconi anemia (FA) proteins function in a DNA repair pathway.