Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum.
MUTYH
Molecular genetics
Mutational signature
NGS
Oncogenetics
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
15
03
2021
revised:
24
09
2021
accepted:
07
11
2021
pubmed:
15
11
2021
medline:
11
3
2022
entrez:
14
11
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34775073
pii: S1769-7212(21)00251-2
doi: 10.1016/j.ejmg.2021.104385
pii:
doi:
Substances chimiques
DNA Glycosylases
EC 3.2.2.-
mutY adenine glycosylase
EC 3.2.2.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104385Informations de copyright
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