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Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer

  • J van den Berg
  • O Johannsson
  • S Håkansson
  • Håkan Olsson
  • Åke Borg
Publishing year: 1996-11
Language: English
Pages: 1615-1619
Publication/Series: British Journal of Cancer
Volume: 74
Issue: 10
Document type: Journal article
Publisher: Nature Publishing Group

Abstract english

Loss of heterozygosity (LOH) was analysed in 84 primary tumours from sporadic, familial and hereditary breast cancer using five microsatellite markers spanning the chromosomal region 13q12-q13 which harbours the BRCA2 breast cancer susceptibility gene, and using one other marker located within the RBI tumour-suppressor gene at 13q14. LOH at the BRCA2 region was found in 34% and at RBI in 27% of the tumours. Selective LOH at BRCA2 occurred in 7% of the tumours, whereas selective LOH at RBI was observed in another 7%. Moreover, a few tumours demonstrated a restricted deletion pattern, suggesting the presence of additional tumour-suppressor genes both proximal and distal of BRCA2. LOH at BRCA2 was significantly correlated to high S-phase values, low oestrogen and progesterone receptor content and DNA non-diploidy. LOH at BRCA2 was also associated, albeit non-significantly, with large tumour size and the ductal and medullar histological types. No correlation was found with lymph node status, patient age or a family history of breast cancer. A highly significant and independent correlation existed between LOH at BRCA2 and early recurrence and death. LOH at RBI was not associated with the above mentioned factors or prognosis. The present study does not provide conclusive evidence that BRCA2 is the sole target for deletions at 13q12-q13 in breast tumours. However, the results suggest that inactivation of one or several tumour-suppressor genes in the 13q12-q13 region confer a strong tumour growth potential and poor prognosis in both familial and sporadic breast cancer.


  • Cancer and Oncology
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • BRCA2 Protein
  • Breast Neoplasms
  • Cell Division
  • Chromosomes, Human, Pair 13
  • DNA, Neoplasm
  • DNA, Satellite
  • Female
  • Gene Deletion
  • Humans
  • Middle Aged
  • Neoplasm Proteins
  • Polymerase Chain Reaction
  • Prognosis
  • S Phase
  • Transcription Factors


  • Lund Melanoma Study Group
  • ISSN: 0007-0920
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