Blood Arsenic Levels as a Marker of Breast Cancer Risk among BRCA1 Carriers

Wojciech Marciniak, Tomas Matousek, Susan Domchek, Angelo Paradiso, Margherita Patruno, Arvīds Irmejs, Irita Roderte, Roza Derkacz, Piotr Baszuk, Magdalena Kuswik, Cezary Cybulski, Tomasz Huzarski, Jacek Gronwald, Tadeusz Debniak, Michal Falco, Marcin R. Lener, Anna Jakubowska, Katherine Pullella, Joanne Kotsopoulos, Steven NarodJan Lubinski (Coresponding Author)

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)
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An important group of breast cancers is those associated with inherited susceptibility. In women, several predisposing mutations in genes involved in DNA repair have been discovered. Women with a germline pathogenic variant in BRCA1 have a lifetime cancer risk of 70%. As part of a larger prospective study on heavy metals, our aim was to investigate if blood arsenic levels are associated with breast cancer risk among women with inherited BRCA1 mutations. A total of 1084 participants with pathogenic variants in BRCA1 were enrolled in this study. Subjects were followed from 2011 to 2020 (mean follow-up time: 3.75 years). During that time, 90 cancers were diagnosed, including 67 breast and 10 ovarian cancers. The group was stratified into two categories (lower and higher blood As levels), divided at the median (<0.85 µg/L and ≥0.85 µg/L) As level among all unaffected participants. Cox proportional hazards models were used to model the association between As levels and cancer incidence. A high blood As level (≥0.85 µg/L) was associated with a significantly increased risk of developing breast cancer (HR = 2.05; 95%CI: 1.18–3.56; p = 0.01) and of any cancer (HR = 1.73; 95%CI: 1.09–2.74; p = 0.02). These findings suggest a possible role of environmental arsenic in the development of cancers among women with germline pathogenic variants in BRCA1.
Original languageEnglish
Article number3345
Number of pages10
Issue number13
Publication statusPublished - 3 Jul 2021


  • blood arsenic
  • cancer risk
  • epidemiology
  • BRCA1 carriers
  • prospective cohort
  • breast cancer

Field of Science*

  • 3.2 Clinical medicine
  • 3.1 Basic medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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