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dc.contributor.authorToogood, Andy
dc.contributor.authorEng, C
dc.contributor.authorSmith, D P
dc.contributor.authorPonder, B A
dc.contributor.authorShalet, Stephen M
dc.date.accessioned2010-05-10T16:27:25Z
dc.date.available2010-05-10T16:27:25Z
dc.date.issued1995-12
dc.identifier.citationNo mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B. 1995, 43 (6):759-62 Clin. Endocrinolen
dc.identifier.issn0300-0664
dc.identifier.pmid8736281
dc.identifier.doi10.1111/j.1365-2265.1995.tb00547.x
dc.identifier.urihttp://hdl.handle.net/10541/98401
dc.description.abstractMultiple endocrine neoplasia type 2B (MEN 2B) is a rare cancer syndrome which is inherited in an autosomal dominant manner. The molecular basis of this condition has recently been defined as a mutation of codon 918 of exon 16 of the RET proto-oncogene. The mutation in codon 918 has been described in 69 out of 72 families with MEN 2B. We have studied a brother and sister who undoubtedly have the features of MEN 2B as evidenced by medullary thyroid carcinoma, phaeochromocytoma, mucosal neuromas and skeletal abnormalities. Neither of these patients has the classic gene mutation at codon 918 of exon 16 of the RET proto-oncogene, and although exons 2-20 have also been sequenced, no abnormality has been found. DNA analysis is a sensitive method of screening families for the MEN 2 syndromes. The absence of the mutation at codon 918 in a phenotypically normal individual would refute the diagnosis of MEN 2B, but in an individual with some of the features of MEN 2B would make the clinician reconsider the diagnosis. This family demonstrates that, although it is rare, the absence of the mutation in codon 918 of exon 16 of the RET proto-oncogene does not always exclude the diagnosis of MEN 2B. In such families routine biochemical screening for medullary thyroid carcinoma and phaeochromocytoma must be maintained for all individuals at genetic risk.
dc.language.isoenen
dc.subjectMouth Canceren
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshCodon
dc.subject.meshDrosophila Proteins
dc.subject.meshFemale
dc.subject.meshGerm-Line Mutation
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMouth Neoplasms
dc.subject.meshMultiple Endocrine Neoplasia Type 2b
dc.subject.meshNeuroma
dc.subject.meshProto-Oncogene Proteins
dc.subject.meshProto-Oncogene Proteins c-ret
dc.subject.meshProto-Oncogenes
dc.subject.meshReceptor Protein-Tyrosine Kinases
dc.subject.meshSequence Analysis, DNA
dc.titleNo mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B.en
dc.typeArticleen
dc.contributor.departmentDepartment of Endocrinology, Christie Hospital NHS Trust, Manchester, UK.en
dc.identifier.journalClinical Endocrinologyen
html.description.abstractMultiple endocrine neoplasia type 2B (MEN 2B) is a rare cancer syndrome which is inherited in an autosomal dominant manner. The molecular basis of this condition has recently been defined as a mutation of codon 918 of exon 16 of the RET proto-oncogene. The mutation in codon 918 has been described in 69 out of 72 families with MEN 2B. We have studied a brother and sister who undoubtedly have the features of MEN 2B as evidenced by medullary thyroid carcinoma, phaeochromocytoma, mucosal neuromas and skeletal abnormalities. Neither of these patients has the classic gene mutation at codon 918 of exon 16 of the RET proto-oncogene, and although exons 2-20 have also been sequenced, no abnormality has been found. DNA analysis is a sensitive method of screening families for the MEN 2 syndromes. The absence of the mutation at codon 918 in a phenotypically normal individual would refute the diagnosis of MEN 2B, but in an individual with some of the features of MEN 2B would make the clinician reconsider the diagnosis. This family demonstrates that, although it is rare, the absence of the mutation in codon 918 of exon 16 of the RET proto-oncogene does not always exclude the diagnosis of MEN 2B. In such families routine biochemical screening for medullary thyroid carcinoma and phaeochromocytoma must be maintained for all individuals at genetic risk.


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