Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Kazakh population
early-onset breast cancer
next-generation sequencing
pathogenic variant
triple negative breast cancer
Journal
Oncotarget
ISSN: 1949-2553
Titre abrégé: Oncotarget
Pays: United States
ID NLM: 101532965
Informations de publication
Date de publication:
04 10 2023
04 10 2023
Historique:
medline:
5
10
2023
pubmed:
4
10
2023
entrez:
4
10
2023
Statut:
epublish
Résumé
Breast cancer (BC) is the most common type of cancer among women in Kazakhstan. To date, little data are available on the spectrum of genetic variation in Kazakh women with BC. We aimed to identify population-specific genetic markers associated with the risk of developing early-onset BC and test their association with clinical and prognostic factors. The study included 224 Kazakh women diagnosed with BC (≤40 age). Entire coding regions (>1700 exons) and the flanking noncoding regions of 94 cancer-associated genes were sequenced from blood DNA using MiSeq platform. We identified 38 unique pathogenic variants (PVs) in 13 different cancer-predisposing genes among 57 patients (25.4%), of which 6 variants were novel. In total, 12 of the 38 distinct PVs were detected recurrently, including
Identifiants
pubmed: 37791908
pii: 28518
doi: 10.18632/oncotarget.28518
pmc: PMC10549772
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
860-877Références
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