PMID- 10362365
OWN - NLM
STAT- MEDLINE
DCOM- 19990628
LR  - 20191210
IS  - 0950-9232 (Print)
IS  - 0950-9232 (Linking)
VI  - 18
IP  - 22
DP  - 1999 Jun 3
TI  - Mutations in the RAD54 recombination gene in primary cancers.
PG  - 3427-30
AB  - Association of a recombinational repair protein RAD51 with tumor suppressors
      BRCA1 and BRCA2 suggests that defects in homologous recombination are responsible
      for tumor formation. Also recent findings that a protein associated with the
      MRE11/RAD50 repair complex is mutated in Nijmegen breakage syndrome characterized
      by increased cancer incidence and ionizing radiation sensitivity strongly support
      this idea. However, the direct roles of BRCA proteins and the protein responsible
      for NBS in recombinational repair are not clear though they are associated with
      the recombinational repair complexes. Since RAD51 forms a complex with other
      members of the RAD52 epistasis group and with BRCA proteins, it is reasonable to 
      ask if alterations of members of the RAD52 epistasis group lead to tumor
      development. Here we describe missense mutations at functional regions of RAD54
      and the absence of the wild-type RAD54 expression resulting from aberrant
      splicing in primary cancers. Since RAD54 is a recombinational protein associated 
      with RAD51, this is the first genetic evidence that cancer arises from a defect
      in repair processes involving homologous recombination.
FAU - Matsuda, M
AU  - Matsuda M
AD  - Department of Molecular Pathology, Research Institute for Radiation Biology and
      Medicine, Hiroshima University, Japan.
FAU - Miyagawa, K
AU  - Miyagawa K
FAU - Takahashi, M
AU  - Takahashi M
FAU - Fukuda, T
AU  - Fukuda T
FAU - Kataoka, T
AU  - Kataoka T
FAU - Asahara, T
AU  - Asahara T
FAU - Inui, H
AU  - Inui H
FAU - Watatani, M
AU  - Watatani M
FAU - Yasutomi, M
AU  - Yasutomi M
FAU - Kamada, N
AU  - Kamada N
FAU - Dohi, K
AU  - Dohi K
FAU - Kamiya, K
AU  - Kamiya K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Oncogene
JT  - Oncogene
JID - 8711562
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - EC 3.6.4.- (RAD54L protein, human)
SB  - IM
MH  - Adenocarcinoma/genetics/pathology
MH  - Aged
MH  - Amino Acid Sequence
MH  - Breast Neoplasms/*genetics/pathology
MH  - Carcinoma, Ductal, Breast/genetics/pathology
MH  - Colorectal Neoplasms/*genetics
MH  - Conserved Sequence
MH  - DNA Helicases
MH  - DNA-Binding Proteins
MH  - Female
MH  - Humans
MH  - Lymphoma/*genetics
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Nuclear Proteins/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Recombination, Genetic
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/06/11 00:00
MHDA- 1999/06/11 00:01
CRDT- 1999/06/11 00:00
PHST- 1999/06/11 00:00 [pubmed]
PHST- 1999/06/11 00:01 [medline]
PHST- 1999/06/11 00:00 [entrez]
AID - 10.1038/sj.onc.1202692 [doi]
PST - ppublish
SO  - Oncogene. 1999 Jun 3;18(22):3427-30. doi: 10.1038/sj.onc.1202692.