Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation.

Nikolaos Tsoulos¹, Eirini Papadopoulou¹, Konstantinos Agiannitopoulos¹, Dimitrios Grigoriadis¹, Georgios N Tsaousis¹, Dimitra Bouzarelou¹, Helen Gogas², Theodore Troupis³, Vassileios Venizelos⁴, Elena Fountzilas⁵, Maria Theochari⁶, Dimitrios C Ziogas², Stylianos Giassas⁷, Anna Koumarianou⁸, Athina Christopoulou⁹, George Busby¹⁰, George Nasioulas¹, Christos Markopoulos³

¹Genekor Medical S.A., 15344 Athens, Greece.

²First Department of Internal Medicine, Laikon General Hospital, School of Medicine, National Kapodistrian University of Athens, 11527 Athens, Greece.

³School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.

⁴Metropolitan Hospital, 18547 Athens, Greece.

⁵Second Department of Medical Oncology, Euromedica General Clinic, 54645 Thessaloniki, Greece.

⁶Oncology Unit, "Hippokrateion" General Hospital of Athens, 11527 Athens, Greece.

⁷Second Oncology Clinic IASO, General Maternity and Gynecology Clinic, 15123 Athens, Greece.

⁸Hematology Oncology Unit, 4th Department of Internal Medicine, School of Medicine, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.

⁹Oncology Unit, ST Andrews General Hospital of Patras, 26332 Patras, Greece.

¹⁰Allelica Inc., 447 Broadway, New York, NY 10013, USA.

PubMed PMC DOI PDF

Abstract

Breast cancer (BC) is the most prominent tumor type among women, accounting for 32% of newly diagnosed cancer cases. BC risk factors include inherited germline pathogenic gene variants and family history of disease. However, the etiology of the disease remains occult in most cases. Therefore, in the absence of high-risk factors, a polygenic basis has been suggested to contribute to susceptibility.…

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