Document Detail

Large genomic BRCA2 rearrangements and male breast cancer.
MedLine Citation:
PMID:  17113724     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point mutations in contrast to BRCA1 in which large genomic rearrangements are quite common. In recent literature, however, genomic alterations of BRCA2 have been linked especially to male breast cancer families. We wanted to screen large genomic deletions and duplications of BRCA2 among Finnish male breast cancer patients. METHODS: We used multiplex ligation-dependent probe amplification (MLPA) to detect large genomic rearrangements in the BRCA2 gene among 36 unselected Finnish male breast cancer patients previously tested and found negative for Finnish BRCA1 and BRCA2 founder mutations. RESULTS: No genomic mutations of BRCA2 nor CHEK2*1100delC point mutations, also included in the assay, were found in this study. CONCLUSION: Large genomic BRCA2 rearrangements were not found among our 36 Finnish male breast cancer patients. Screening of large BRCA2 rearrangements is not likely to be advantageous in Finland.
Ritva Karhu; Eeva Laurila; Anne Kallioniemi; Kirsi Syrjäkoski
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Publication Detail:
Type:  Journal Article     Date:  2006-11-20
Journal Detail:
Title:  Cancer detection and prevention     Volume:  30     ISSN:  0361-090X     ISO Abbreviation:  Cancer Detect. Prev.     Publication Date:  2006  
Date Detail:
Created Date:  2006-12-05     Completed Date:  2007-03-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7704778     Medline TA:  Cancer Detect Prev     Country:  England    
Other Details:
Languages:  eng     Pagination:  530-4     Citation Subset:  IM    
Laboratory of Cancer Genetics, Tampere University Hospital and Institute of Medical Technology, University of Tampere, Teiskontie 35, FIN-33520 Tampere, Finland.
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MeSH Terms
Aged, 80 and over
Breast Neoplasms, Male / genetics*,  prevention & control
Chromosomes, Human, Pair 13 / genetics*
DNA Mutational Analysis / methods*
DNA Probes
Gene Rearrangement*
Genes, BRCA2*
Mass Screening
Middle Aged
Nucleic Acid Amplification Techniques / methods
Reg. No./Substance:
0/DNA Probes

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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