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01-04-2019 | Original Article

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

Authors: Kelly Fulk, Holly LaDuca, Mary Helen Black, Dajun Qian, Yuan Tian, Amal Yussuf, Carin Espenschied, Kory Jasperson

Published in: Familial Cancer | Issue 2/2019

Abstract

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.

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Title: Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
Authors: Kelly Fulk
Holly LaDuca
Mary Helen Black
Dajun Qian
Yuan Tian
Amal Yussuf
Carin Espenschied
Kory Jasperson
Publication date: 01-04-2019
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2019
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-018-00114-4

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