PMID- 10417759
OWN - NLM
STAT- MEDLINE
DCOM- 19990813
LR  - 20211203
IS  - 0020-7136 (Print)
IS  - 0020-7136 (Linking)
VI  - 82
IP  - 5
DP  - 1999 Aug 27
TI  - Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a
      HPRCC family.
PG  - 640-3
AB  - Germline mutations in the tyrosine-kinase domain of the MET proto-oncogene were
      found in patients suffering from the hereditary predisposition to develop
      multiple papillary renal-cell carcinomas (hereditary PRCC, HPRCC). PRCCs are
      often multiple and bilateral even in patients without a family history. We
      analyzed the germline of patients carrying multiple or single papillary tumors
      with and without family history. One patient had a familial cancer and carried a 
      novel (V1110I) germline MET mutation, located in MET gene exon 16. This mis-sense
      mutation was found in affected members of this patient's family. Interestingly,
      the V1110I mutation is located in the ATP-binding site of the MET kinase and is
      homologous to the V157I mutation that triggers the sarcomagenic potential of the 
      v-erbB oncogene. The V1110I mutated MET receptor is an active kinase and
      transforms NIH-3T3 fibroblasts in the in vitro assays. Patients without
      familiality did not show germline mutations in the MET kinase domain, showing
      that multiple and bilateral papillary kidney tumors develop in the absence of
      these mutations. In conclusion, we describe a new mutation in the MET oncogene
      kinase domain, associated to HPRCC, affecting an amino-acid residue critical for 
      kinase activation in different oncogenes.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Olivero, M
AU  - Olivero M
AD  - Laboratory of Cancer Genetics, Institute for Cancer Research and Treatment,
      Candiolo, Turin, Italy.
FAU - Valente, G
AU  - Valente G
FAU - Bardelli, A
AU  - Bardelli A
FAU - Longati, P
AU  - Longati P
FAU - Ferrero, N
AU  - Ferrero N
FAU - Cracco, C
AU  - Cracco C
FAU - Terrone, C
AU  - Terrone C
FAU - Rocca-Rossetti, S
AU  - Rocca-Rossetti S
FAU - Comoglio, P M
AU  - Comoglio PM
FAU - Di Renzo, M F
AU  - Di Renzo MF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Int J Cancer
JT  - International journal of cancer
JID - 0042124
RN  - 0 (DNA, Complementary)
RN  - 0 (MAS1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
RN  - 8L70Q75FXE (Adenosine Triphosphate)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-met)
SB  - IM
MH  - Adenosine Triphosphate/metabolism
MH  - Binding Sites
MH  - Carcinoma, Renal Cell/*genetics/pathology
MH  - Cell Transformation, Neoplastic
MH  - DNA, Complementary/genetics
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Kidney Neoplasms/*genetics/pathology
MH  - Male
MH  - Pedigree
MH  - Proto-Oncogene Mas
MH  - Proto-Oncogene Proteins c-met/*genetics
EDAT- 1999/07/27 00:00
MHDA- 1999/07/27 00:01
CRDT- 1999/07/27 00:00
PHST- 1999/07/27 00:00 [pubmed]
PHST- 1999/07/27 00:01 [medline]
PHST- 1999/07/27 00:00 [entrez]
AID - 10.1002/(SICI)1097-0215(19990827)82:5<640::AID-IJC4>3.0.CO;2-6 [pii]
AID - 10.1002/(sici)1097-0215(19990827)82:5<640::aid-ijc4>3.0.co;2-6 [doi]
PST - ppublish
SO  - Int J Cancer. 1999 Aug 27;82(5):640-3. doi:
      10.1002/(sici)1097-0215(19990827)82:5<640::aid-ijc4>3.0.co;2-6.