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Genome-wide association study identifies novel breast cancer susceptibility loci
TLDR
To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation.
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
TLDR
The specific RET codon mutation correlates with the MEN2 syndromic variant, the age of onset of M TC, and the aggressiveness of MTC; consequently, that mutation should guide major management decisions, such as whether and when to perform thyroidectomy.
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
TLDR
The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in bRCA2 carriers <50 years of age.
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.
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
TLDR
This work has identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls, and found that 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of theRET extracellular and transmembrane domains.
Catalytic specificity of protein-tyrosine kinases is critical for selective signalling
TLDR
A degenerate peptide library is used to show that each of nine tyrosine kinases investigated has a unique optimal peptide substrate, and indicates that a point mutation in the RET receptor-type tyosine kinase, which causes multiple endocrine neoplasia type 2B, results in a shift in peptide substrates specificity.
Cytogenetic analysis by chromosome painting using dop‐pcr amplified flow‐sorted chromosomes
TLDR
This study shows that flow sorting of aberrant chromosomes and chromosome painting can be used as a rapid aid to cytogenetic analysis, particularly in cases of difficult karyotypes, such as tumours.
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