Tandem GermlineRETMutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment | Zendy

Minoru Kihara | Zendy; Akira Miyauchi | Zendy; Hiroshi Yoshida | Zendy; Osamu Yamada | Zendy; Hiroo Masuoka | Zendy; Tomonori Yabuta | Zendy; Takuya Higashiyama | Zendy; Mitsuhiro Fukushima | Zendy; Yasuhiro Ito | Zendy; Kaoru Kobayashi | Zendy; Akihiro Miya | Zendy

Open Access

Tandem GermlineRETMutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment

Author(s) -

Minoru Kihara,

Akira Miyauchi,

Hiroshi Yoshida,

Osamu Yamada,

Hiroo Masuoka,

Tomonori Yabuta,

Takuya Higashiyama,

Mitsuhiro Fukushima,

Yasuhiro Ito,

Kaoru Kobayashi,

Akihiro Miya

Publication year - 2014

Publication title -

european thyroid journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.23

H-Index - 10

eISSN - 2235-0802

pISSN - 2235-0640

DOI - 10.1159/000369134

Subject(s) - germline , germline mutation , genetics , medicine , allele , somatic cell , mutation , cancer research , offspring , tandem repeat , biology , gene , genome , pregnancy

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.

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