• Publications
  • Influence
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
TLDR
Clinical topics addressed in this scholarly dialog included initial diagnosis and therapy of preclinical disease, management of persistent or recurrent MTC, long-term follow-up and management (including the frequency of follow- up and imaging), and directions for future research. Expand
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. Expand
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
TLDR
Mutational analysis of PTEN in CD kindreds has identified germline mutations that are predicted to disrupt the protein tyrosine/dual-specificity phosphatase domain of this gene, and implies that PTEN may play a role in organizing the relationship of different cell types within an organ during development. Expand
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
TLDR
It is suggested that genotype-phenotype correlations do exist and, if made reliably absolute, could prove useful in the future in clinical management with respect to screening, surveillance, and prophylaxis, as well as provide insight into the genetic effects of particular mutations. Expand
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
CONTEXT Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively. In bothExpand
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
TLDR
The link between mitochondrial dysfunction and tumorigenesis is extended and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility. Expand
Essential Role for Nuclear PTEN in Maintaining Chromosomal Integrity
TLDR
It is proposed that PTEN acts as a guardian of genome integrity through the physical interaction with centromeres and control of DNA repair, and a nuclear function for PTEN in controlling chromosomal integrity is reported. Expand
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. Expand
Germ-line mutations in nonsyndromic pheochromocytoma.
TLDR
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheosene-associated syndromes that would otherwise be missed. Expand
PTEN: One Gene, Many Syndromes
  • C. Eng
  • Biology, Medicine
  • Human mutation
  • 1 September 2003
TLDR
Genotype–phenotype association analyses have revealed that the presence of germline PTEN mutations is associated with breast tumor development, and that mutations occurring within and 5′ of the phosphatase motif were associated with multi‐organ involvement. Expand
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