Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1994-11-7
pubmed:abstractText
The suitability of formalin-fixed and paraffin-embedded tumor material was evaluated for molecular analysis of the RET proto-oncogene. We analyzed exons 10, 11, and 16 for point mutations in seven sporadic and six multiple endocrine neoplasia (MEN) 2A-associated pheochromocytomas by a nonradioactive single-strand conformation polymorphism assay followed by nonradioactive direct sequencing of PCR-amplified DNA using an automated DNA sequencer. All MEN 2A-associated pheochromocytomas contained a heterozygous missense germline mutation within cystine codons of the cysteine-rich extracellular domain encoded by exons 10 and 11. Mutations were located in codon 619 (TGC-->TCC; Cys-->Ser) in one, in codon 635 (TGC-->CGC; Cys--Arg) in three, and in codon 635 (TGC-->TAC; Cys-->Tyr) in two pheochromocytomas. No tumor-specific (somatic) mutations were detected in exons 10, 11, and 16 of the sporadic pheochromocytomas. These data support recent findings that germline point mutations that are clustered in distinct cysteine codons of the RET proto-oncogene are involved in the neoplastic phenotype of the MEN 2A syndrome. Our results demonstrate that both nonradioactive single-strand conformation polymorphism and direct sequencing are suitable methods to detect single base substitutions in DNA extracted from archival material.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-1362408, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-1362425, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-1452458, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-1542652, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-1701232, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2014179, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2022740, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2041788, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2057373, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2660074, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2687159, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2687772, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2826637, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-2871941, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-3078962, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-7901994, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-7903272, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-7906865, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-7906866, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-7981687, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8098558, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8099202, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8103403, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8105382, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8114938, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8114939, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8287125, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8325950, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8361767, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8393126, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8493574, http://linkedlifedata.com/resource/pubmed/commentcorrection/7943181-8509216
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0002-9440
pubmed:author
pubmed:issnType
Print
pubmed:volume
145
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
922-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:7943181-Adolescent, pubmed-meshheading:7943181-Adrenal Gland Neoplasms, pubmed-meshheading:7943181-Adult, pubmed-meshheading:7943181-Aged, pubmed-meshheading:7943181-Base Sequence, pubmed-meshheading:7943181-Drosophila Proteins, pubmed-meshheading:7943181-Female, pubmed-meshheading:7943181-Humans, pubmed-meshheading:7943181-Male, pubmed-meshheading:7943181-Middle Aged, pubmed-meshheading:7943181-Molecular Probes, pubmed-meshheading:7943181-Molecular Sequence Data, pubmed-meshheading:7943181-Paraffin Embedding, pubmed-meshheading:7943181-Pheochromocytoma, pubmed-meshheading:7943181-Point Mutation, pubmed-meshheading:7943181-Polymerase Chain Reaction, pubmed-meshheading:7943181-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:7943181-Proto-Oncogene Proteins, pubmed-meshheading:7943181-Proto-Oncogene Proteins c-ret, pubmed-meshheading:7943181-Receptor Protein-Tyrosine Kinases
pubmed:year
1994
pubmed:articleTitle
Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing.
pubmed:affiliation
Division of Cell and Molecular Pathology, University of Zürich, Switzerland.
pubmed:publicationType
Journal Article