The Genetics of Breast Cancer 
and Head & Neck Paragangliomas

Past & Present research goals


Previous work:

  1. Breast Cancer:
    • Linkage analysis in ~200 well-defined Dutch breast cancer families
    • Loss of heterozygosity analysis in inherited breast tumors
    • Loss of heterozygosity mapping of 16q in sporadic breast tumors
    • Mutation screening of BRCA1 and BRCA2 in breast cancer families
    • Mutation screening of BRCA1 and BRCA2 in consecutively collected series of breast cancer cases
  2. Head & Neck Paragangliomas:
    • Linkage analysis in ~30 paraganglioma families
    • Loss of heterozygosity analysis in microdissected and flow-sorted paragangliomas
    • Mutation screening of SDHD in familial and sporadic cases

Present research goals:

  1. Breast Cancer:
    • A linkage search for BRCA3
    • A search for genetic factors that may modify the risk conferred by BRCA1 and BRCA2 by candidate gene analysis
    • Identifying the tumor suppressor gene(s) targeted by LOH on 16q
    • The analysis of a mouse model carrying a C-terminally truncated allele of Brca1
    • The development of a functional assay for BRCA1 and BRCA2 mutations
  2. Head & Neck Paragangliomas:
    • Mutation analysis of SDHD in sporadic paraganglioma (in germline and in the tumors)
    • The development of a mouse model carrying a null allele of SDHD
    • Identification of the gene-defect mapping to PGL2 on 11q13
    • Ultrastructural and biochemical analysis of the role of mitochondria in the genesis of paraganglioma in inherited patients