The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

Irene Catucci, Paolo Verderio, Sara Pizzamiglio, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Gaia Roversi, Carla B. Ripamonti, Barbara Pasini, Monica Barile, Alessandra Viel, Giuseppe Giannini, Laura Papi, Liliana Varesco, Aline Martayan, Mirko Riboni, Sara Volorio, Paolo Radice, Paolo Peterlongo

Research output: Contribution to journalArticlepeer-review


The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08-1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24-2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66-1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations.

Original languageEnglish
Pages (from-to)855-860
Number of pages6
JournalBreast Cancer Research and Treatment
Issue number3
Publication statusPublished - Feb 2011


  • BRCA mutation carriers
  • Breast cancer risk
  • CASP8
  • Polymorphism
  • rs3834129

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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