Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort

  • Kelly FulkEmail author
  • Holly LaDuca
  • Mary Helen Black
  • Dajun Qian
  • Yuan Tian
  • Amal Yussuf
  • Carin Espenschied
  • Kory Jasperson
Original Article


Whether monoallelic MUTYH mutations increase female breast cancer risk remains controversial. This study aimed to determine if monoallelic MUTYH mutations are associated with increased breast cancer risk in women undergoing multigene panel testing (MGPT). The prevalence of monoallelic MUTYH mutations was compared between Non-Hispanic white female breast cancer cases (n = 30,456) and cancer-free controls (n = 12,289), all of whom underwent MGPT that included MUTYH. We tested breast cancer associations with MUTYH alleles using Fisher’s exact test, followed by multivariate logistic regression adjusted for age at testing and MGPT type ordered. Frequencies of the two most common MUTYH founder mutations, p.G396D and p.Y179C, were compared independently between the breast cancer cases and MGPT controls, as well as the healthy UK10K control population (n = 2640). Comparing cases to MGPT controls, no association was observed between female breast cancer and any monoallelic MUTYH carrier status (OR 0.86–1.36, p = 0.21–0.96). Similarly, comparisons to UK10K controls revealed no significant increase in breast cancer risk associated with p.G396D (OR 1.20, p = 0.44) or p.Y179C (OR 1.71, p = 0.24). This study did not find a significant increase in breast cancer risk associated with monoallelic MUTYH mutations.


Breast cancer MUTYH carrier Monoallelic MUTYH Multigene panel testing Colorectal cancer 


Compliance with ethical standards

Conflict of interest

C.E. was a full-time salaried employee of Ambry Genetics during the time she worked on this study and is currently a full-time salaried employee of Guardant Health. All other authors are currently full-time salaried employees of Ambry Genetics.

Supplementary material

10689_2018_114_MOESM1_ESM.docx (19 kb)
Supplementary material 1 (DOCX 19 KB)


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Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  • Kelly Fulk
    • 1
    Email author
  • Holly LaDuca
    • 1
  • Mary Helen Black
    • 1
  • Dajun Qian
    • 1
  • Yuan Tian
    • 1
  • Amal Yussuf
    • 1
  • Carin Espenschied
    • 1
    • 2
  • Kory Jasperson
    • 1
  1. 1.Ambry GeneticsAliso ViejoUSA
  2. 2.Guardant HealthRedwood CityUSA

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