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Article

Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women

1
Department of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus
2
The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus
3
Department of Medical Oncology, Bank of Cyprus Oncology Center, Nicosia 2012, Cyprus
4
Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this study.
Academic Editor: Ettore Bidoli
Cancers 2021, 13(18), 4568; https://doi.org/10.3390/cancers13184568
Received: 2 August 2021 / Revised: 3 September 2021 / Accepted: 8 September 2021 / Published: 11 September 2021
(This article belongs to the Special Issue Risk Assessment for Breast Cancer)
Breast cancer is the most commonly diagnosed type of cancer in women worldwide. Stratification of women based on their individual breast cancer risk could guide targeted preventative strategies and population screening. Integrated models that combine the effects of a polygenic risk score (PRS) with classical breast cancer risk factors could provide an individualized breast-cancer risk estimation. Although various studies have extensively evaluated the performance of such integrated models in populations of European ancestry, no previous studies have included individuals of Greek-Cypriot origin. To this end, we have assessed the predictive performance of a 15-SNP PRS (PRS15), in combination with classical breast-cancer risk factors, in women of Greek-Cypriot origin. This proof-of-concept study suggests that models combining genetic data with classical risk factors may be used in the future for the prediction of breast-cancer risk and, therefore, supports their potential clinical utility for targeted preventative strategies in Cypriot women.
The PRS combines multiplicatively the effects of common low-risk single nucleotide polymorphisms (SNPs) and has the potential to be used for the estimation of an individual’s risk for a trait or disease. PRS has been successfully implemented for the prediction of breast cancer risk. The combination of PRS with classical breast cancer risk factors provides a more comprehensive risk estimation and could, thus, improve risk stratification and personalized preventative strategies. In this study, we assessed the predictive performance of the combined effect of PRS15 with classical breast-cancer risk factors in Cypriot women using 1109 cases and 1177 controls from the MASTOS study. The PRS15 was significantly associated with an increased breast cancer risk in Cypriot women OR (95% CI) 1.66 (1.25–2.19). The integrated risk model obtained an AUC (95% CI) 0.70 (0.67–0.72) and had the ability to stratify women according to their disease status at the extreme deciles. These results provide evidence that the combination of PRS with classical risk factors may be used in the future for the stratification of Cypriot women based on their disease risk, and support its potential clinical utility for targeted preventative actions and population screening. View Full-Text
Keywords: breast cancer; polygenic risk score; classical risk factors; risk prediction; Cypriot women breast cancer; polygenic risk score; classical risk factors; risk prediction; Cypriot women
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MDPI and ACS Style

Yiangou, K.; Kyriacou, K.; Kakouri, E.; Marcou, Y.; Panayiotidis, M.I.; Loizidou, M.A.; Hadjisavvas, A.; Michailidou, K. Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women. Cancers 2021, 13, 4568. https://doi.org/10.3390/cancers13184568

AMA Style

Yiangou K, Kyriacou K, Kakouri E, Marcou Y, Panayiotidis MI, Loizidou MA, Hadjisavvas A, Michailidou K. Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women. Cancers. 2021; 13(18):4568. https://doi.org/10.3390/cancers13184568

Chicago/Turabian Style

Yiangou, Kristia, Kyriacos Kyriacou, Eleni Kakouri, Yiola Marcou, Mihalis I. Panayiotidis, Maria A. Loizidou, Andreas Hadjisavvas, and Kyriaki Michailidou. 2021. "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women" Cancers 13, no. 18: 4568. https://doi.org/10.3390/cancers13184568

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