Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F24%3A00079796" target="_blank" >RIV/00209805:_____/24:00079796 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10482363 RIV/00216208:11310/24:10482363 RIV/00064165:_____/24:10482363
Result on the web
<a href="https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.35337" target="_blank" >https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.35337</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/cncr.35337" target="_blank" >10.1002/cncr.35337</a>
Alternative languages
Result language
angličtina
Original language name
Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction
Original language description
BACKGROUND: The polygenic risk score (PRS) allows the quantification of the polygenic effect of many low-penetrance alleles on the risk of breast cancer (BC). This study aimed to evaluate the performance of two sets comprising 77 or 313 low-penetrance loci (PRS77 and PRS313) in patients with BC in the Czech population. METHODS: In a retrospective case-control study, variants were genotyped from both the PRS77 and PRS313 sets in 1329 patients with BC and 1324 noncancer controls, all women without germline pathogenic variants in BC predisposition genes. Odds ratios (ORs) were calculated according to the categorical PRS in individual deciles. Weighted Cox regression analysis was used to estimate the hazard ratio (HR) per standard deviation (SD) increase in PRS. RESULTS: The distributions of standardized PRSs in patients and controls were significantly different (p < 2.2 x 10(-16)) with both sets. PRS313 outperformed PRS77 in categorical and continuous PRS analyses. For patients in the highest 2.5% of PRS313, the risk reached an OR of 3.05 (95% CI, 1.66-5.89; p = 1.76 x 10(-4)). The continuous risk was estimated as an HR(per SD) of 1.64 (95% CI, 1.49-1.81; p < 2.0 x 10(-16)), which resulted in an absolute risk of 21.03% at age 80 years for individuals in the 95th percentile of PRS313. Discordant categorization into PRS deciles was observed in 248 individuals (9.3%). CONCLUSIONS: Both PRS77 and PRS313 are able to stratify individuals according to their BC risk in the Czech population. PRS313 shows better discriminatory ability. The results support the potential clinical utility of using PRS313 in individualized BC risk prediction.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cancer
ISSN
0008-543X
e-ISSN
1097-0142
Volume of the periodical
130
Issue of the periodical within the volume
17
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
2978-2987
UT code for WoS article
001215842900001
EID of the result in the Scopus database
2-s2.0-85192381579