Genome-wide scanning for linkage in finnish breast cancer families

Pia Huusko, Suh Hang Hank Juo, Elizabeth Gillanders, Laura Sarantaus, Tommi Kainu, Pia Vahteristo, Minna Allinen, Mary Pat Jones, Katrin Rapakko, Hannaleena Eerola, Carol Markey, Paula Vehmanen, Derek Gildea, Diane Freas-Lutz, Carl Blomqvist, Jaakko Leiste, Guillermo Blanco, Ulla Puistola, Jeffrey Trent, Joan Bailey-WilsonRobert Winqvist, Heli Nevanlinna, Olli P. Kallioniemi

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Only a proportion of breast cancer families has germline mutations in the BRCA1 or BRCA2 genes, suggesting the presence of additional susceptibility genes. Finding such genes by linkage analysis has turned out to be difficult due to the genetic heterogeneity of the disease, phenocopies and incomplete penetrance of the mutations. Isolated populations may be helpful in reducing the level of genetic heterogeneity and in providing useful starting points for further genetic analyses. Here, we report results from a genome-wide linkage analysis of 14 high-risk breast cancer families from Finland. These families tested negative for BRCA1 and BRCA2 germline mutations and showed no linkage to the 13q21 region, recently proposed as an additional susceptibility locus. Suggestive linkage was seen at marker D2S364 (2q32) with a parametric two-point LOD score of 1.61 (θ = 0), and an LOD score of 2.49 in nonparametric analyses. Additional genotyping of a 40 cM chromosomal region surrounding the region of interest yielded a maximum parametric two-point LOD score of 1.80 (θ = 0) at D2S2262 and a nonparametric LOD score of 3.11 at an adjacent novel marker 11291M1 in BAC RP11-67G7. A nonparametric multipoint LOD score of 3.20 was seen at 11291M1 under the assumption of dominant inheritance. While not providing proof of linkage considering the small number of families and large number of laboratory and statistical analyses performed, these results warrant further studies of the 2q32 chromosomal region as a candidate breast cancer susceptibility locus. Both linkage and association studies are likely to be useful, particularly in other isolated populations.

Original languageEnglish (US)
Pages (from-to)98-104
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number2
StatePublished - Feb 2004


  • Breast cancer
  • Chromosome 2q
  • Finland
  • Genome-wide linkage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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