Two Germline Missense Mutations at Codons 804 and 806 of the RET Proto‐oncogene in the Same Allele in a Patient with Multiple Endocrine Neoplasia Type 2B without Codon 918 Mutation

@inproceedings{Miyauchi1999TwoGM,
  title={Two Germline Missense Mutations at Codons 804 and 806 of the RET Proto‐oncogene in the Same Allele in a Patient with Multiple Endocrine Neoplasia Type 2B without Codon 918 Mutation},
  author={Akira Miyauchi and Hitoyasu Futami and N. T. Bik Hai and Tamotsu Yokozawa and Kanji Kuma and Norihiko Aoki and Shinji Kosugi and Kokichi Sugano and Ken Yamaguchi},
  booktitle={Japanese journal of cancer research : Gann},
  year={1999}
}
Multiple endocrine neoplasia (MEN) type 2B is a clinically distinct entity among the autosomal dominant MEN 2 syndromes. Most patients with MEN 2B carry a germline mutation (M918T) of the RET proto-oncogene, while a few carry A883F. We examined a patient with MEN 2B, but without M918T or A883F, and her relatives. Here, we report the presence in this patient of 2 germline mutations, V804M and Y806C in the same allele. While the novel Y806C was inherited from her father, its carriers (her father… CONTINUE READING