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Article

Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

Thyroid : official journal of the American Thyroid Association - 1 Dec 2017

Mathiesen Jes Sloth, Kroustrup Jens Peter, Vestergaard Peter, Stochholm Kirstine, Poulsen Per Løgstrup, Rasmussen Åse Krogh, Feldt-Rasmussen Ulla, Gaustadnes Mette, Ørntoft Torben Falck, Rossing Maria, Nielsen Finn Cilius, Albrechtsen Anders, Brixen Kim, Godballe Christian, Frederiksen Anja Lisbeth

Abstract excerpt

BACKGROUND: Multiple endocrine neoplasia (MEN) 2A and 2B are caused by REarranged during Transfection (RET) germline mutations. In a recent nationwide study, an unusually high prevalence (33%) of families with the C611Y mutation was reported, and it was hypothesized that this might be due to a founder effect. The first nationwide study of haplotypes in MEN2A families was conducted, with the aim of investigating...

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PMID: 29020875
DOI: 10.1089/thy.2017.0404

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RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.PMID 29020875Read ↗

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