PMID- 18704682
OWN - NLM
STAT- MEDLINE
DCOM- 20090929
LR  - 20151119
IS  - 1573-7217 (Electronic)
IS  - 0167-6806 (Linking)
VI  - 116
IP  - 3
DP  - 2009 Aug
TI  - Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with 
      array-CGH.
PG  - 479-89
LID - 10.1007/s10549-008-0117-z [doi]
AB  - BACKGROUND: While new defects in BRCA1 are still being found, it is unclear 
      whether current breast cancer diagnostics misses many BRCA1-associated cases. A 
      reliable test that is able to indicate the involvement of BRCA1 deficiency in 
      cancer genesis could support decision making in genetic counselling and clinical 
      management. To find BRCA1-specific markers and explore the effectiveness of the 
      current diagnostic strategy, we designed a classification method, validated it 
      and examined whether we could find BRCA1-like breast tumours in a group of 
      patients initially diagnosed as non-BRCA1/2 mutation carriers. METHODS: A 
      classifier was built based on array-CGH profiles of 18 BRCA1-related and 32 
      control breast tumours, and validated on independent sets of 16 BRCA1-related and 
      16 control breast carcinomas. Subsequently, we applied the classifier to 48 
      breast tumours of patients from Hereditary Breast and Ovarian Cancer (HBOC) 
      families in whom no germ line BRCA1/BRCA2 mutations were identified. RESULTS: The 
      classifier showed an accuracy of 91% when applied to the validation sets. In 48 
      non-BRCA1/2 patients, only two breast tumours presented a BRCA1-like CGH profile. 
      Additional evidence for BRCA1 dysfunction was found in one of these tumours. 
      CONCLUSION: We here describe the specific chromosomal aberrations in 
      BRCA1-related breast carcinomas. We developed a predictive genetic test for 
      BRCA1-association and show that BRCA1-related tumours can still be identified in 
      HBOC families after routine DNA diagnostics.
FAU - Joosse, Simon A
AU  - Joosse SA
AD  - Division of Experimental Therapy, The Netherlands Cancer Institute NKI/AvL, 
      1066CX, Amsterdam, The Netherlands. s.joosse@nki.nl
FAU - van Beers, Erik H
AU  - van Beers EH
FAU - Tielen, Ivon H G
AU  - Tielen IH
FAU - Horlings, Hugo
AU  - Horlings H
FAU - Peterse, Johannes L
AU  - Peterse JL
FAU - Hoogerbrugge, Nicoline
AU  - Hoogerbrugge N
FAU - Ligtenberg, Marjolijn J
AU  - Ligtenberg MJ
FAU - Wessels, Lodewyk F A
AU  - Wessels LF
FAU - Axwijk, Priscilla
AU  - Axwijk P
FAU - Verhoef, Senno
AU  - Verhoef S
FAU - Hogervorst, Frans B L
AU  - Hogervorst FB
FAU - Nederlof, Petra M
AU  - Nederlof PM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080814
PL  - Netherlands
TA  - Breast Cancer Res Treat
JT  - Breast cancer research and treatment
JID - 8111104
RN  - 0 (BRCA1 Protein)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (DNA, Neoplasm)
SB  - IM
MH  - Adult
MH  - Aged
MH  - BRCA1 Protein/*genetics
MH  - Biomarkers, Tumor/genetics
MH  - Breast Neoplasms/*classification/*genetics/pathology
MH  - Chromosome Aberrations
MH  - *Comparative Genomic Hybridization
MH  - DNA Methylation
MH  - DNA, Neoplasm/genetics/metabolism
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Immunoenzyme Techniques
MH  - Loss of Heterozygosity
MH  - Middle Aged
MH  - *Oligonucleotide Array Sequence Analysis
MH  - Predictive Value of Tests
EDAT- 2008/08/16 09:00
MHDA- 2009/09/30 06:00
CRDT- 2008/08/16 09:00
PHST- 2008/03/05 00:00 [received]
PHST- 2008/07/01 00:00 [accepted]
PHST- 2008/08/16 09:00 [pubmed]
PHST- 2009/09/30 06:00 [medline]
PHST- 2008/08/16 09:00 [entrez]
AID - 10.1007/s10549-008-0117-z [doi]
PST - ppublish
SO  - Breast Cancer Res Treat. 2009 Aug;116(3):479-89. doi: 10.1007/s10549-008-0117-z. 
      Epub 2008 Aug 14.