High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Journal
NPJ breast cancer
ISSN: 2374-4677
Titre abrégé: NPJ Breast Cancer
Pays: United States
ID NLM: 101674891
Informations de publication
Date de publication:
29 Jun 2022
29 Jun 2022
Historique:
received:
29
09
2021
accepted:
10
06
2022
entrez:
29
6
2022
pubmed:
30
6
2022
medline:
30
6
2022
Statut:
epublish
Résumé
The mammary gland undergoes hormonally stimulated cycles of proliferation, lactation, and involution. We hypothesized that these factors increase the mutational burden in glandular tissue and may explain high cancer incidence rate in the general population, and recurrent disease. Hence, we investigated the DNA sequence variants in the normal mammary gland, tumor, and peripheral blood from 52 reportedly sporadic breast cancer patients. Targeted resequencing of 542 cancer-associated genes revealed subclonal somatic pathogenic variants of: PIK3CA, TP53, AKT1, MAP3K1, CDH1, RB1, NCOR1, MED12, CBFB, TBX3, and TSHR in the normal mammary gland at considerable allelic frequencies (9 × 10
Identifiants
pubmed: 35768433
doi: 10.1038/s41523-022-00443-9
pii: 10.1038/s41523-022-00443-9
pmc: PMC9243094
doi:
Types de publication
Journal Article
Langues
eng
Pagination
76Subventions
Organisme : Austrian Science Fund FWF
ID : P 30867
Pays : Austria
Informations de copyright
© 2022. The Author(s).
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