Tjaša Oblak (Avtor), Petra Cerkovnik (Avtor), Benjamin J. Narang (Avtor), Rok Blagus (Avtor), Mateja Krajc (Avtor), Srdjan Novaković (Avtor), Janez Žgajnar (Avtor)

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

zgodnji rak dojke;poligenski dejavniki tveganja;napoved tveganja;early breast cancer;polygenic risk score;risk prediction;

Podatki

Jezik: Angleški jezik
Leto izida:
Tipologija: 1.01 - Izvirni znanstveni članek
Organizacija: OI - Onkološki inštitut Ljubljana
Založnik: Elsevier
UDK: 618.1
COBISS: 171467523 Povezava se bo odprla v novem oknu
ISSN: 0960-9776
Št. ogledov: 24
Št. prenosov: 6
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Slovenski jezik
Sekundarne ključne besede: zgodnji rak dojke;poligenski dejavniki tveganja;napoved tveganja;
Vrsta dela (COBISS): Članek v reviji
Strani: str. [1-10]
Letnik: ǂVol. ǂ 72
Zvezek: ǂšt. ǂ
Čas izdaje: 2023
DOI: 10.1016/j.breast.2023.103590
ID: 23196560