PMID- 10424788
OWN - NLM
STAT- MEDLINE
DCOM- 19990816
LR  - 20190720
IS  - 0304-3835 (Print)
IS  - 0304-3835 (Linking)
VI  - 142
IP  - 1
DP  - 1999 Jul 19
TI  - A novel splicing mutation (894-9 G --> A) of the MEN1 gene responsible for 
      multiple endocrine neoplasia type 1.
PG  - 105-10
AB  - Germline MEN1 gene mutations are responsible for multiple endocrine neoplasia 
      type 1 (MEN1), a dominantly inherited cancer syndrome. We identified a MEN1 
      germline mutation 894-9 G --> A in three MEN1 patients from two unrelated 
      families. This mutation was not present in any of the 100 blood samples from 
      normal volunteers. The wild type MEN1 sequence was lost in the patient's 
      pancreatic tumor. Abnormal mRNA was identified in the tumor, which retained an 
      intronic sequence indicating aberrant mRNA splicing at a newly created splicing 
      acceptor site. These findings indicate that this nucleotide substitution is, 
      though previously reported to be a polymorphism, a causative splicing mutation.
FAU - Kishi, M
AU  - Kishi M
AD  - Growth Factor Division, National Cancer Center Research Institute, Tokyo, Japan.
FAU - Tsukada, T
AU  - Tsukada T
FAU - Shimizu, S
AU  - Shimizu S
FAU - Hosono, K
AU  - Hosono K
FAU - Ohkubo, T
AU  - Ohkubo T
FAU - Kosuge, T
AU  - Kosuge T
FAU - Sugano, K
AU  - Sugano K
FAU - Kanbe, M
AU  - Kanbe M
FAU - Obara, T
AU  - Obara T
FAU - Yamaguchi, K
AU  - Yamaguchi K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Ireland
TA  - Cancer Lett
JT  - Cancer letters
JID - 7600053
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Polymorphism, Genetic
MH  - *Proto-Oncogene Proteins
MH  - RNA Splicing
EDAT- 1999/07/29 00:00
MHDA- 1999/07/29 00:01
CRDT- 1999/07/29 00:00
PHST- 1999/07/29 00:00 [pubmed]
PHST- 1999/07/29 00:01 [medline]
PHST- 1999/07/29 00:00 [entrez]
AID - S0304-3835(99)00156-1 [pii]
AID - 10.1016/s0304-3835(99)00156-1 [doi]
PST - ppublish
SO  - Cancer Lett. 1999 Jul 19;142(1):105-10. doi: 10.1016/s0304-3835(99)00156-1.