Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

Nazneen Rahman, M. Dawn Teare, Sheila Seal, Helene Renard, Jon Mangion, Chantal Cour, Deborah Thompson, Yin Shugart, Diana Eccles, Peter Devilee, Hanne Meijers, Katherine L. Nathanson, Susan L. Neuhausen, Barbara Weber, Jenny Chang-Claude, Douglas F. Easton, David Goldgar, Michael R. Stratton

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Several recent studies indicate that the majority of families with five or fewer cases of breast cancer and no cases of ovarian cancer are not due to BRCA1 or BRCA2. It has been proposed that a further breast cancer susceptibility gene that may account for some of these families is located on chromosome 8p12-p22. We have identified 31 site-specific breast cancer families that have a greater than 80% posterior probability of being due to genes other than BRCA1 or BRCA2. These families have been examined for linkage to 8p12-p22 using markers flanking the putative location of the gene. The overall multi-point LOD score is strongly negative across the whole 44 cM. The individual multi-point LOD score is negative in 23 families and only exceeds 0.5 in a single family (with a multi-point LOD score of 1.22). The maximum heterogeneity LOD score was 0.03 at marker D8S136 with estimated proportion linked (α) of 3% (95% CI 0-30%). These data do not lend support to the hypothesis that chromosome 8p12-p22 harbours a familial breast cancer susceptibility gene.

Original languageEnglish (US)
Pages (from-to)4170-4173
Number of pages4
Issue number36
StatePublished - Aug 24 2000
Externally publishedYes


  • BRCA1
  • BRCA2
  • Breast cancer
  • Chromosome 8p
  • Familial

ASJC Scopus subject areas

  • Molecular Biology
  • Cancer Research
  • Genetics


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