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Mutations of the BRAF gene in human cancer
TLDR
BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Signatures of mutational processes in human cancer
TLDR
It is shown that hypermutation localized to small genomic regions, ‘kataegis’, is found in many cancer types, and this results reveal the diversity of mutational processes underlying the development of cancer.
Systematic identification of genomic markers of drug sensitivity in cancer cells
TLDR
It was found that mutated cancer genes were associated with cellular response to most currently available cancer drugs, and systematic pharmacogenomic profiling in cancer cell lines provides a powerful biomarker discovery platform to guide rational cancer therapeutic strategies.
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.
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
TLDR
The identification of inactivating mutations in two genes encoding enzymes involved in histone modification and NF2 mutations were found in non-VHL mutated ccRCC, and several other probable cancer genes were identified, indicating that substantial genetic heterogeneity exists in a cancer type dominated by mutations in a single gene.
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
TLDR
The molecular background of the Peutz–Jeghers syndrome, a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems, is investigated and truncating germline mutations in a gene residing on chromosome 19p are identified.
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