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Review article
Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility
  1. M M de Jong1,2,3,
  2. I M Nolte2,
  3. G J te Meerman2,
  4. W T A van der Graaf1,
  5. J C Oosterwijk2,
  6. J H Kleibeuker3,
  7. M Schaapveld4,
  8. E G E de Vries1
  1. 1Department of Medical Oncology, University Hospital, Groningen, The Netherlands
  2. 2Department of Medical Genetics, University Hospital, Groningen, The Netherlands
  3. 3Department of Gastroenterology, University Hospital, Groningen, The Netherlands
  4. 4Comprehensive Cancer Centre Northern Netherlands, Groningen, The Netherlands
  1. Correspondence to:
 Dr E G E de Vries, Department of Medical Oncology, University Hospital Groningen, Hanzeplein 1, PO Box 30.001 RB, Groningen, The Netherlands;
 E.G.E.de.Vries{at}int.azg.nl

Abstract

This review focuses on genes other than the high penetrance genes BRCA1 and BRCA2 that are involved in breast cancer susceptibility. The goal of this review is the discovery of polymorphisms that are either associated with breast cancer or that are in strong linkage disequilibrium with breast cancer causing variants. An association with breast cancer at a 5% significance level was found for 13 polymorphisms in 10 genes described in more than one breast cancer study. Our data will help focus on the further analysis of genetic polymorphisms in populations of appropriate size, and especially on the combinations of such polymorphisms. This will facilitate determination of population attributable risks, understanding of gene-gene interactions, and improving estimates of genetic cancer risks.

  • breast cancer
  • genetic polymorphisms
  • low penetrance gene
  • pooled analysis
  • OR, odds ratio
  • CI, confidence interval
  • PAR, population attributable risk
  • LD linkage disequilibrium
  • LOH, loss of heterozygosity
  • RR, relative risk

https://doi.org/10.1136/jmg.39.4.225

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