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Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.
Hovhannisyan M, Zemankova P, Nehasil P, Matejkova K, Borecka M, Cerna M, Dolezalova T, Dvorakova L, Foretova L, Horackova K, Jelinkova S, Just P, Kalousova M, Kral J, Machackova E, Nemcova B, Safarikova M, Springer D, Stastna B, Tavandzis S, Vocka M, Zima T, Soukupova J, Kleiblova P, Ernst C, Kleibl Z, Janatova M. Hovhannisyan M, et al. Among authors: dolezalova t. Cancer. 2024 May 8. doi: 10.1002/cncr.35337. Online ahead of print. Cancer. 2024. PMID: 38718029
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Zemankova P, Cerna M, Horackova K, Ernst C, Soukupova J, Borecka M, Blümcke B, Cerna L, Cerna M, Curtisova V, Dolezalova T, Duskova P, Dvorakova L, Foretova L, Havranek O, Hauke J, Hahnen E, Hodulova M, Hovhannisyan M, Hruskova L, Janatova M, Janikova M, Jelinkova S, Just P, Kosarova M, Koudova M, Krutilkova V, Machackova E, Matejkova K, Michalovska R, Misove A, Nehasil P, Nemcova B, Novotny J, Panczak A, Pesek P, Scheinost O, Springer D, Stastna B, Stranecky V, Subrt I, Tavandzis S, Tureckova E, Vesela K, Vlckova Z, Vocka M, Wappenschmidt B, Zima T, Kleibl Z, Kleiblova P. Zemankova P, et al. Among authors: dolezalova t. Breast. 2024 Jun;75:103721. doi: 10.1016/j.breast.2024.103721. Epub 2024 Mar 25. Breast. 2024. PMID: 38554551 Free PMC article.
Clinical Potential of Effective Noninvasive Exclusion of KEL1-Positive Fetuses in KEL1-Negative Pregnant Women.
Böhmova J, Vodicka R, Lubusky M, Holuskova I, Studnickova M, Kratochvilova R, Krejcirikova E, Janikova M, Durdová V, Dolezalová T, Filipová H, Dusek L, Dhaifalah I, Vomackova K, Kacerovsky M, Prochazka M, Vrtel R. Böhmova J, et al. Among authors: dolezalova t. Fetal Diagn Ther. 2016;40(1):48-53. doi: 10.1159/000441296. Epub 2015 Oct 23. Fetal Diagn Ther. 2016. PMID: 26492079