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Naslov:Breast cancer risk prediction using Tyrer-Cuzick algorithm with an 18-SNPs polygenic risk score in a European population with below-average breast cancer incidence
Avtorji:ID Oblak, Tjaša (Avtor)
ID Škerl, Petra (Avtor)
ID Narang, Benjamin J. (Avtor)
ID Blagus, Rok (Avtor)
ID Krajc, Mateja (Avtor)
ID Novaković, Srdjan (Avtor)
ID Žgajnar, Janez (Avtor)
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (1,54 MB)
MD5: 30126FCF8DD7081DEACE47978CED93DA
 
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo OI - Onkološki inštitut Ljubljana
Povzetek:Goals: To determine whether an 18 single nucleotide polymorphisms (SNPs) polygenic risk score (PRS18) improves breast cancer (BC) risk prediction for women at above-average risk of BC, aged 40-49, in a Central European population with BC incidence below EU average. Methods: 502 women aged 40-49 years at the time of BC diagnosis completed a questionnaire on BC risk factors (as per Tyrer-Cuzick algorithm) with data known at age 40 and before BC diagnosis. Blood samples were collected for DNA isolation. 250 DNA samples from healthy women aged 50 served as a control cohort. 18 BC-associated SNPs were genotyped in both groups and PRS18 was calculated. The predictive power of PRS18 to detect BC was evaluated using a ROC curve. 10-year BC risk was calculated using the Tyrer-Cuzick algorithm adapted to the Slovenian incidence rate (S-IBIS): first based on questionnaire-based risk factors and, second, including PRS18. Results: The AUC for PRS18 was 0.613 (95 % CI 0.570-0.657). 83.3 % of women were classified at above-average risk for BC with S-IBIS without PRS18 and 80.7 % when PRS18 was included. Conclusion: BC risk prediction models and SNPs panels should not be automatically used in clinical practice in different populations without prior population-based validation. In our population the addition of an 18SNPs PRS to questionnaire-based risk factors in the Tyrer-Cuzick algorithm in general did not improve BC risk stratification, however, some improvements were observed at higher BC risk scores and could be valuable in distinguishing women at intermediate and high risk of BC.
Ključne besede:early breast cancer, polygenic risk score, risk prediction
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Poslano v recenzijo:27.09.2023
Datum sprejetja članka:09.10.2023
Datum objave:12.10.2023
Založnik:Elsevier
Leto izida:2023
Št. strani:str. [1-10]
Številčenje:Vol. 72, št.
Izvor:Amsterdam
PID:20.500.12556/DiRROS-18506 Novo okno
UDK:618.1
ISSN pri članku:0960-9776
DOI:10.1016/j.breast.2023.103590 Novo okno
COBISS.SI-ID:171467523 Novo okno
Avtorske pravice:by Authors
Datum objave v DiRROS:21.03.2024
Število ogledov:723
Število prenosov:211
Metapodatki:XML DC-XML DC-RDF
:
OBLAK, Tjaša, ŠKERL, Petra, NARANG, Benjamin J., BLAGUS, Rok, KRAJC, Mateja, NOVAKOVIĆ, Srdjan in ŽGAJNAR, Janez, 2023, Breast cancer risk prediction using Tyrer-Cuzick algorithm with an 18-SNPs polygenic risk score in a European population with below-average breast cancer incidence. The Breast [na spletu]. 2023. Vol. 72, p. 1–10. [Dostopano 4 april 2025]. DOI 10.1016/j.breast.2023.103590. Pridobljeno s: https://dirros.openscience.si/IzpisGradiva.php?lang=slv&id=18506
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Gradivo je del revije

Naslov:The Breast
Skrajšan naslov:Breast
Založnik:Churchill Livingstone
ISSN:0960-9776
COBISS.SI-ID:1316116 Novo okno

Licence

Licenca:CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
Opis:Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.
Začetek licenciranja:12.10.2023

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Jezik:Slovenski jezik
Ključne besede:zgodnji rak dojke, poligenski dejavniki tveganja, napoved tveganja


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