Article
Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.
Cancer - 1 Sept 2024
Hovhannisyan Milena, Zemankova Petra, Nehasil Petr, Matejkova Katerina, Borecka Marianna, Cerna Marta, Dolezalova Tatana, Dvorakova Lenka, Foretova Lenka, Horackova Klara, Jelinkova Sandra, Just Pavel, Kalousova Marta, Kral Jan, Machackova Eva, Nemcova Barbora, Safarikova Marketa, Springer Drahomira, Stastna Barbora, Tavandzis Spiros, Vocka Michal, Zima Tomas, Soukupova Jana, Kleiblova Petra, Ernst Corinna, Kleibl Zdenek, Janatova Marketa
Abstract excerpt
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...
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