PMID- 11199332
OWN - NLM
STAT- MEDLINE
DCOM- 20010621
LR  - 20191210
IS  - 0946-2716 (Print)
IS  - 0946-2716 (Linking)
VI  - 78
IP  - 10
DP  - 2000
TI  - Enhanced detection of mutations in BRCA1 exon 11 using restriction endonuclease 
      fingerprinting-single-strand conformation polymorphism.
PG  - 580-7
AB  - A novel approach to mutation screening in the large exon 11 (comprising 3427 bp) 
      of the human BRCA1 gene is presented. Restriction endonuclease fingerprinting 
      single-strand conformation polymorphism (REF-SSCP) is based on repeated detection 
      of DNA sequence variants in different restriction endonuclease fragments, and we 
      evaluated the method using blood samples from 25 Norwegian patients with 
      hereditary breast/ovarian cancer. We compared REF-SSCP to constant denaturant gel 
      electrophoresis (CDGE) and to the protein truncation test (PTT). REF-SSCP 
      detected 12 different DNA variants. Four of these were not detected by CDGE, and 
      only one variant detected by CDGE was missed by REF-SSCP. PTT detected 4 of these 
      13 variants. REF-SSCP was subsequently applied to a second patient series 
      (Swedish, n=20). A total of 14 different DNA variants were detected by REF-SSCP, 
      6 of which were truncating mutations (PTT detected only 4). Nonsense and 
      frameshift mutations that are putative breast/ovarian cancer mutations, were 
      detected in 7 of the 25 Norwegian and 9 of the 20 Swedish patients.
FAU - Jugessur, A
AU  - Jugessur A
AD  - Center for Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
FAU - Frost, P
AU  - Frost P
FAU - Andersen, T I
AU  - Andersen TI
FAU - Steine, S
AU  - Steine S
FAU - Lindblom, A
AU  - Lindblom A
FAU - Borresen-Dale, A L
AU  - Borresen-Dale AL
FAU - Eiken, H G
AU  - Eiken HG
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - Germany
TA  - J Mol Med (Berl)
JT  - Journal of molecular medicine (Berlin, Germany)
JID - 9504370
RN  - EC 3.1.21.- (DNA Restriction Enzymes)
SB  - IM
MH  - Breast Neoplasms/*genetics
MH  - DNA Fingerprinting/methods
MH  - DNA Restriction Enzymes/metabolism
MH  - Exons/*genetics
MH  - Female
MH  - Genes, BRCA1/*genetics
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Mutation/*genetics
MH  - Ovarian Neoplasms/genetics
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 2001/02/24 12:00
MHDA- 2001/06/22 10:01
CRDT- 2001/02/24 12:00
PHST- 2001/02/24 12:00 [pubmed]
PHST- 2001/06/22 10:01 [medline]
PHST- 2001/02/24 12:00 [entrez]
AID - 10.1007/s001090000147 [doi]
PST - ppublish
SO  - J Mol Med (Berl). 2000;78(10):580-7. doi: 10.1007/s001090000147.