Document Detail


Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium.
MedLine Citation:
PMID:  23211574     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Twenty years ago, the groundbreaking discovery that rearranged during transfection (RET) mutations underlie multiple endocrine neoplasia 2 (MEN2) and familial medullary thyroid cancer (FMTC) ushered in the era of personalized medicine. MEN2-associated signs, taking time to manifest, can be subtle. This study sought to clarify to what extent conventional estimates of 1:200 000-500 000 underestimate the incidence of RET mutations in the population.
DESIGN: Included in this retrospective investigation were 333 RET carriers born between 1951 and 2000 and operated on at the largest German surgical referral center (286 carriers) or elsewhere (47 carriers).
METHODS: To estimate the incidence of RET mutations, the number of RET carriers born in Germany in five decades (1951-1960, 1961-1970, 1971-1980, 1981-1990, and 1991-2000) was divided by the corresponding number of German live births.
RESULTS: Owing to improved diagnosis and capture of FMTC and MEN2 patients, minimum incidence estimates increased over time: overall from 5.0 (1951-1960) to 9.9 (1991-2000) per million live births and year (P=0.008), and by American Thyroid Association/ATA class from 1.7 to 3.7 for ATA class C (P=0.008); from 1.8 to 2.7 for ATA class A (P=0.017); from 1.5 to 2.2 for ATA class B (P=0.20); and from 0 to 1.4 for ATA class D mutations per million live births and year (P=0.008). Based on 1991-2000 incidence estimates the prevalence in Germany is ∼1:80 000 inhabitants.
CONCLUSIONS: The molecular minimum incidence estimate of ≈1:100 000 was two- to fivefold greater than conventional estimates of 1:200 000-500 000.
Authors:
Andreas Machens; Kerstin Lorenz; Carsten Sekulla; Wolfgang Höppner; Karin Frank-Raue; Friedhelm Raue; Henning Dralle
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Publication Detail:
Type:  Journal Article     Date:  2013-02-15
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  168     ISSN:  1479-683X     ISO Abbreviation:  Eur. J. Endocrinol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-18     Completed Date:  2013-04-08     Revised Date:  2013-05-08    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  307-14     Citation Subset:  IM    
Affiliation:
Department of General, Visceral and Vascular Surgery, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Straße 40, D-06097 Halle (Saale), Germany. andreasmachens@aol.com
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MeSH Terms
Descriptor/Qualifier:
Carcinoma, Medullary / congenital,  epidemiology,  genetics,  metabolism
Cohort Studies
Early Detection of Cancer / methods*
Europe / epidemiology
Gene Rearrangement*
Germ-Line Mutation
Heterozygote
Humans
Incidence
Life Expectancy
Molecular Epidemiology / methods
Multiple Endocrine Neoplasia Type 2a / epidemiology*,  genetics*,  metabolism
Mutation*
Mutation, Missense
Prevalence
Proto-Oncogene Proteins c-ret / genetics*,  metabolism
Reproducibility of Results
Retrospective Studies
Tertiary Care Centers
Thyroid Neoplasms / epidemiology,  genetics,  metabolism
Transfection*
Chemical
Reg. No./Substance:
EC 2.7.10.1/Proto-Oncogene Proteins c-ret; EC 2.7.10.1/RET protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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