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Phenotypic expressi...
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Lindskog, Stefan
(författare)
Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618
- Artikel/kapitelEngelska2004
Förlag, utgivningsår, omfång ...
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2004-03-29
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Oxford University Press (OUP),2004
Nummerbeteckningar
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LIBRIS-ID:oai:gup.ub.gu.se/47322
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https://gup.ub.gu.se/publication/47322URI
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https://doi.org/10.1002/bjs.4457DOI
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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BACKGROUND: Multiple endocrine neoplasia type 2A (MEN2A) is caused by missense mutations in the RET proto-oncogene on chromosome 10. This paper reports the phenotypic expression of a family with MEN2A, in which serine substitutes for cysteine at codon 618 in exon 10 of the RET gene. It was first claimed that medullary thyroid cancer (MTC) with this rare mutation led to mild disease; this has recently been updated to intermediate-high risk, based on stratified genetic information. METHODS: The family was mapped over six generations. In 1971 family members were invited to join a screening programme. Genetic testing was started in 1994. RESULTS: Twenty-two individuals with MTC were identified, 16 by the screening programme. One screened patient had a phaeochromocytoma and four had hyperparathyroidism. At surgery for MTC 12 patients had local tumour metastases and two young patients also had liver metastases. No screened patient died from MTC during a mean observation time of 19 years. Six other family members were diagnosed with MTC by signs and symptoms, five of whom died from MTC. CONCLUSION: Because of the great interindividual differences in tumour aggressiveness within the family it is impossible to predict whether an individual gene carrier will have an aggressive MTC or not. This unpredictability is an additional argument, besides those obtained in stratified genetic studies, for operating on gene carriers at young age.
Ämnesord och genrebeteckningar
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Adolescent
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Adult
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Aged
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Chromosomes
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Human
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Pair 10/*genetics
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Female
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Humans
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Male
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Middle Aged
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Multiple Endocrine Neoplasia Type 2a/*genetics
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Mutation/*genetics
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Neoplasm Metastasis/genetics
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Oncogene Proteins/*genetics
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Phenotype
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Proto-Oncogene Proteins c-ret
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Receptor Protein-Tyrosine Kinases/*genetics
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Nilsson, Ola,1957Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin , Avdelningen för patologi,Institute of Laboratory Medicine, Dept of Pathology(Swepub:gu)xnilol
(författare)
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Jansson, Svante,1948Gothenburg University,Göteborgs universitet,Institutionen för de kirurgiska disciplinerna, Avdelningen för kirurgi,Institute of Surgical Sciences, Department of Surgery(Swepub:gu)xjanss
(författare)
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Nilsson, Bengt E,1949Gothenburg University,Göteborgs universitet,Institutionen för de kirurgiska disciplinerna, Avdelningen för kirurgi,Institute of Surgical Sciences, Department of Surgery(Swepub:gu)xniben
(författare)
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Illerskog-Lindström, Ann-Christin,1958Gothenburg University,Göteborgs universitet,Institutionen för de kirurgiska disciplinerna, Avdelningen för kirurgi,Institute of Surgical Sciences, Department of Surgery(Swepub:gu)xillan
(författare)
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Ysander, L.
(författare)
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Ahlman, Håkan,1947Gothenburg University,Göteborgs universitet,Institutionen för de kirurgiska disciplinerna, Avdelningen för kirurgi,Institute of Surgical Sciences, Department of Surgery(Swepub:gu)xahlha
(författare)
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Tisell, Lars-Eric,1931Gothenburg University,Göteborgs universitet,Institutionen för de kirurgiska disciplinerna, Avdelningen för kirurgi,Institute of Surgical Sciences, Department of Surgery
(författare)
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Göteborgs universitetInstitutionen för laboratoriemedicin , Avdelningen för patologi
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:The British journal of surgery: Oxford University Press (OUP)91:6, s. 713-80007-13231365-2168
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