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Identification of the breast cancer susceptibility gene BRCA2
TLDR
The identification of a gene in which six different germline mutations in breast cancer families that are likely to be due to BRCA2 are detected, and results indicate that this is the BRC a2 gene. Expand
Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition.
TLDR
The results indicate that PARP inhibition might be a useful therapeutic strategy not only for the treatment of BRCA mutation-associated tumors but also for a wider range of tumors bearing a variety of deficiencies in the HR pathway or displaying properties of 'BRCAness. Expand
The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus
TLDR
Analysis of the entire mouse Xist gene supports a role for Xist in X inactivation, possibly as a functional RNA or as a chromatin organizer region. Expand
Identification of the familial cylindromatosis tumour-suppressor gene
TLDR
The susceptibility gene (CYLD) has been identified by detecting germline mutations in 21 cylindromatosis families and somatic mutations in 1 sporadic and 5 familialcylindromas, all mutations predict truncation or absence of the encoded protein. Expand
Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation
TLDR
It is shown that Brca2 is required for efficient DNA repair, and the results suggest that loss of the p53 checkpoint may be essential for tumour progression triggered by mutations in BRCA2. Expand
An SRY‐related gene expressed during spermatogenesis in the mouse encodes a sequence‐specific DNA‐binding protein.
TLDR
SRY, the testis determining gene, encodes a member of a family of DNA binding proteins characterized by an amino acid sequence motif known as the HMG box, and Sry can also bind to this motif, indicating that the Sry family may have overlapping sequence specificities. Expand
Mutation in Brca2 stimulates error‐prone homology‐directed repair of DNA double‐strand breaks occurring between repeated sequences
TLDR
It is shown that loss of Brca2 leads to a substantial increase in error‐prone repair by homology‐directed single‐strand annealing and a reduction in DSB repair by conservative gene conversion, and provides insight into the mechanisms that induce genome instability in tumour cells lacking BRCA2. Expand
Structural basis for recruitment of BRCA2 by PALB2
TLDR
The structure of the PALB2 carboxy‐terminal β‐propeller domain in complex with a BRCA2 peptide is determined and shows the molecular determinants of this important protein–protein interaction and explains the effects of both cancer‐associated truncating mutants in PALB 2 and missense mutations in the amino‐ terminal region of B RCA2. Expand
A synthetic lethal siRNA screen identifying genes mediating sensitivity to a PARP inhibitor
TLDR
It is shown that CDK5 is required in non‐neuronal cells for the DNA‐damage response and, in particular, intra‐S and G2/M cell‐cycle checkpoints, which highlights the potential of synthetic lethal siRNA screens with chemical inhibitors to define new determinants of sensitivity and potential therapeutic targets. Expand
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