Javascript is not activated in your browser. This website needs javascript activated to work properly.
You are here

Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa

  • S. Staff
  • J.J. Isola
  • O. Johannsson
  • Åke Borg
  • M.M. Tanner
Publishing year: 2001
Language: English
Pages: 1201-1205
Publication/Series: British Journal of Cancer
Volume: 85
Issue: 8
Document type: Journal article
Publisher: Nature Publishing Group

Abstract english

Breast cancer susceptibility genes BRCA1 and BRCA2 are tumour suppressor genes the alleles of which have to be inactivated before tumour development occurs. Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (Al) at the respective loci. BRCA1 and BRCA2 are believed to take part in a common pathway in maintenance of genomic integrity in cells. We carried out Al and fluorescence in situ hybridization (FISH) analyses of BRCA2 in breast tumours from germline BRCA1 mutation carriers and vice versa. For comparison, 14 sporadic breast tumours were also studied. 8 of the 11 (73%) informative BRCA1 mutation tumours showed Al at the BRCA2 focus. 53% of these tumours showed a copy number loss of the BRCA2 gene by FISH. 5 of the 6 (83%) informative BRCA2 mutation tumours showed Al at the BRCA1 locus. Half of the tumours (4/8) showed a physical deletion of the BRCA1 gene by FISH. Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH. In conclusion, the high prevalence of Al at BRCA1 in BRCA2 mutation tumours and vice versa suggests that somatic events occurring at the other breast cancer susceptibility gene locus may be selected in the cancer development. The mechanism resulting in Al at these loci seems more complex than a physical deletion.


  • Cancer and Oncology
  • BRCA1
  • BRCA2
  • allelic imbalance
  • LOH
  • FISH


  • ISSN: 1532-1827
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2