Molecular and pathological characterization of inherited breast cancer.

Research output: Contribution to journalArticle


The two major breast cancer susceptibility genes, BRCA1 and BRCA2, account for the majority of familial breast–ovarian cancer, but only a modest proportion of breast cancer families without ovarian or male breast cancer. Search for additional breast cancer genes with traditional linkage analysis has so far been unsuccessful, probably due to genetic heterogeneity. Pooling of families of different ethnical, cultural, and geographical origin proved to be a useful approach when identifying BRCA1 and BRCA2, but for genes mutated only in specific populations it is important not to introduce locus heterogeneity by pooling. Genetic heterogeneity can possibly be circumvented by using objective means, such as tumour histopathology or gene expression profiling, for subclassification of families prior to linkage analysis. Also, additional breast cancer genes can be identified by further characterization of the function of BRCA1 and BRCA2 and their interacting proteins.


Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • breast cancer, BRCA1, BRCA2, molecular characterization, pathological characterization
Original languageEnglish
Pages (from-to)375-385
JournalSeminars in Cancer Biology
Issue number5
Publication statusPublished - 2001
Publication categoryResearch