PMID- 10076558
OWN - NLM
STAT- MEDLINE
DCOM- 19990330
LR  - 20211203
IS  - 0910-5050 (Print)
IS  - 1876-4673 (Electronic)
IS  - 0910-5050 (Linking)
VI  - 90
IP  - 1
DP  - 1999 Jan
TI  - 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.
PG  - 1-5
AB  - 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 and brother) was not affected by MEN 2. In contrast, 
      V804M was a de novo mutation, that has been reported in patients with familial 
      medullary thyroid carcinoma. Combinations of mutations of the RET proto-oncogene 
      may cause oncogenic activities different from those of single mutations.
FAU - Miyauchi, A
AU  - Miyauchi A
AD  - Kuma Hospital, Kobe. miyasan@gold.ocn.ne.jp
FAU - Futami, H
AU  - Futami H
FAU - Hai, N
AU  - Hai N
FAU - Yokozawa, T
AU  - Yokozawa T
FAU - Kuma, K
AU  - Kuma K
FAU - Aoki, N
AU  - Aoki N
FAU - Kosugi, S
AU  - Kosugi S
FAU - Sugano, K
AU  - Sugano K
FAU - Yamaguchi, K
AU  - Yamaguchi K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Japan
TA  - Jpn J Cancer Res
JT  - Japanese journal of cancer research : Gann
JID - 8509412
RN  - 0 (Codon)
RN  - 0 (Drosophila Proteins)
RN  - 0 (MAS1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Ret protein, Drosophila)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Base Sequence
MH  - Codon/genetics
MH  - *Drosophila Proteins
MH  - Exons
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 2b/*genetics
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Mas
MH  - Proto-Oncogene Proteins/*genetics
MH  - Proto-Oncogene Proteins c-ret
MH  - *Proto-Oncogenes
MH  - Receptor Protein-Tyrosine Kinases/*genetics
MH  - Valine
PMC - PMC5925979
EDAT- 1999/03/17 00:00
MHDA- 1999/03/17 00:01
CRDT- 1999/03/17 00:00
PHST- 1999/03/17 00:00 [pubmed]
PHST- 1999/03/17 00:01 [medline]
PHST- 1999/03/17 00:00 [entrez]
AID - S0910505099800209 [pii]
AID - CAE1 [pii]
AID - 10.1111/j.1349-7006.1999.tb00658.x [doi]
PST - ppublish
SO  - Jpn J Cancer Res. 1999 Jan;90(1):1-5. doi: 10.1111/j.1349-7006.1999.tb00658.x.