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04.01.2022 | Original Article

Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

verfasst von: Amanda Bartenbaker Thompson, Erin G. Sutcliffe, Kevin Arvai, Maegan E. Roberts, Lisa R. Susswein, Megan L. Marshall, Rebecca Torene, Kristen J. Vogel Postula, Kathleen S. Hruska, Shaochun Bai

Erschienen in: Familial Cancer | Ausgabe 4/2022

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Abstract

We aimed to determine whether monoallelic MUTYH pathogenic and likely pathogenic variants (PVs) are associated with colorectal, breast, and endometrial cancer. Cases were individuals with colorectal, female breast, or endometrial cancer who reported European ancestry alone and underwent a multi-gene hereditary cancer panel at a large reference laboratory. Controls were individuals of European (non-Finnish) descent from GnomAD with cancer cohorts removed. We performed a Fisher’s exact test to generate odds ratios (ORs) with 95% confidence intervals (CI). Prevalence of single MUTYH PVs in cancer cohorts versus controls, respectively, was: colorectal cancer, 2.1% vs. 1.8% (OR 1.2, 95% CI 0.99–1.5, p = 0.064); breast cancer 1.9% vs. 1.7% (OR 1.1, 95% CI 0.96–1.3, p = 0.15); and endometrial cancer, 1.7% vs. 1.7% (OR 0.98; 95% CI 0.70–1.3, p = 0.94). Using the largest colorectal and endometrial cancer cohorts and one of the largest breast cancer cohorts from a single case–control study, we did not observe a significant difference in the prevalence of monoallelic MUTYH PVs in these cohorts compared to controls. Additionally, frequencies among cancer cohorts were consistent with the published MUTYH carrier frequency of 1–2%. These findings suggest there is no association between colorectal, endometrial, or breast cancer and MUTYH heterozygosity in individuals of European ancestry.

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Titel: Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer
verfasst von: Amanda Bartenbaker Thompson
Erin G. Sutcliffe
Kevin Arvai
Maegan E. Roberts
Lisa R. Susswein
Megan L. Marshall
Rebecca Torene
Kristen J. Vogel Postula
Kathleen S. Hruska
Shaochun Bai
Publikationsdatum: 04.01.2022
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 4/2022
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-021-00285-7

Springer Medizin

Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

Abstract

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Springer Medizin

Abstract

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