Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect

ConclusionsThe mutation p.Cys618Arg is by far the most prevalent mutation in Cyprus followed by other reported mutations of variable clinical significance. The provided molecular evidence speculates p.Cys618Arg mutation as an ancestral mutation that has spread in Cyprus due to a possible founder effect.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research