title: Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.
abstract: A family with germline tandem V804M/Y806C mutations in the RET proto-oncogene was reported. The in vitro study results showing that these mutations were on the same allele and that RET with these mutations had a moderate transforming activity were confirmed by the clinical features of the offspring as a natural experiment. Thus, the tandem double RET mutations are pathogenetic for MEN 2B.
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Minoru
authors.initials: M
authors.lastname: Kihara
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Miyauchi
authors.affiliation: Department of Research, Kuma Hospital, Kobe, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamada
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Hiroo
authors.initials: H
authors.lastname: Masuoka
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Tomonori
authors.initials: T
authors.lastname: Yabuta
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Higashiyama
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Fukushima
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Ito
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Department of Surgery, Kuma Hospital, Kobe, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Miya
keywords: De novo mutation; Medullary thyroid carcinoma; Multiple endocrine neoplasia 2B; RET; Tandem mutations