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Villy MC, Masliah-Planchon J, Buecher B, et al. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2021;65(1):104385doi: 10.1016/j.ejmg.2021.104385.
Villy, M. C., Masliah-Planchon, J., Buecher, B., Beaulaton, C., Vincent-Salomon, A., Stoppa-Lyonnet, D., & Colas, C. (2021). Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. European journal of medical genetics, 65(1), 104385. https://doi.org/10.1016/j.ejmg.2021.104385
Villy, Marie-Charlotte, et al. "Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum." European journal of medical genetics vol. 65,1 (2021): 104385. doi: https://doi.org/10.1016/j.ejmg.2021.104385
Villy MC, Masliah-Planchon J, Buecher B, Beaulaton C, Vincent-Salomon A, Stoppa-Lyonnet D, Colas C. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2021 Nov 11;65(1):104385. doi: 10.1016/j.ejmg.2021.104385. Epub 2021 Nov 11. PMID: 34775073.
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Eur J Med Genet. 2021 Nov 11;65(1):104385. doi: 10.1016/j.ejmg.2021.104385. Epub 2021 Nov 11.

Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum.

European journal of medical genetics

Marie-Charlotte Villy, Julien Masliah-Planchon, Bruno Buecher, Clément Beaulaton, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Chrystelle Colas

Affiliations

  1. Département de Génétique (Department of Genetics), Institut Curie, Paris, France.
  2. Département de Génétique (Department of Genetics), Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, France.
  3. Département de Génétique (Department of Genetics), Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, France; Réseau PRED-IdF, Institut Curie, Paris, France.
  4. Paris Sciences & Lettres Research University, Paris, France; Service de Pathologie (Department of Pathology), Institut Curie, Paris, France.
  5. Département de Génétique (Department of Genetics), Institut Curie, Paris, France; Université de Paris, Inserm U830, Paris, France.
  6. Département de Génétique (Department of Genetics), Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, France. Electronic address: [email protected].

PMID: 34775073 DOI: 10.1016/j.ejmg.2021.104385

Abstract

The MUTYH gene encodes a DNA glycosylase that prevents G:C→T:A transversions. Patients with biallelic pathogenic germline MUTYH variants develop an adenomatous polyposis called MUTYH-associated polyposis (MAP). Endometrial cancers have been reported in patients with MAP, but the role of MUTYH loss of function in the oncogenesis remains unclear. We report for the first time a case of endometrial carcinoma with excess of G:C→T:A transversions in a 61-year-old patient with MAP. Single nucleotide variants of interest, Tumor Mutational Burden (TMB) and somatic mutation profile were obtained from Next-Generation Sequencing (NGS). The Tumor-Infiltrating Lymphocyte (TIL) level and immune infiltrate phenotype were assessed. The endometrial cancer had a high TMB (31.5 variants/Mb) with enrichment in G:C→T:A transversions and the presence of a driver pathogenic variant c.34G>T, p.(Gly12Cys) in KRAS, suggesting a role of MUTYH loss of function in oncogenesis. MUTYH loss of function could be involved in endometrial cancer in patients with MAP.

Copyright © 2021 Elsevier Masson SAS. All rights reserved.

Keywords: MUTYH; Molecular genetics; Mutational signature; NGS; Oncogenetics

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