Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes von Soukupova, Jana, Zemankova, Petra, Lhotova, Klara, Janatova, Marketa, Borecka, Marianna, Stolarova, Lenka, Lhota, Filip, Foretova, Lenka, Machackova, Eva, Stranecky, Viktor, Tavandzis, Spiros, Kleiblova, Petra, Vocka, Michal, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek

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A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition von Zemankova, Petra, Cerna, Marta, Horackova, Klara, Ernst, Corinna, Soukupova, Jana, Borecka, Marianna, Blümcke, Britta, Cerna, Leona, Cerna, Monika, Curtisova, Vaclava, Dolezalova, Tatana, Duskova, Petra, Dvorakova, Lenka, Foretova, Lenka, Havranek, Ondrej, Hauke, Jan, Hahnen, Eric, Hodulova, Miloslava, Hovhannisyan, Milena, Hruskova, Lucie, Janatova, Marketa, Janikova, Maria, Jelinkova, Sandra, Just, Pavel, Kosarova, Marcela, Koudova, Monika, Krutilkova, Vera, Machackova, Eva, Matejkova, Katerina, Michalovska, Renata, Misove, Adela, Nehasil, Petr, Nemcova, Barbora, Novotny, Jan, Panczak, Ales, Pesek, Pavel, Scheinost, Ondrej, Springer, Drahomira, Stastna, Barbora, Stranecky, Viktor, Subrt, Ivan, Tavandzis, Spiros, Tureckova, Eva, Vesela, Kamila, Vlckova, Zdenka, Vocka, Michal, Wappenschmidt, Barbara, Zima, Tomas, Kleibl, Zdenek, Kleiblova, Petra

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The c.657del5 variant in the NBN gene predisposes to pancreatic cancer von Borecka, Marianna, Zemankova, Petra, Lhota, Filip, Soukupova, Jana, Kleiblova, Petra, Vocka, Michal, Soucek, Pavel, Ticha, Ivana, Kleibl, Zdenek, Janatova, Marketa

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A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer von Soukupova, Jana, Stastna, Barbora, Kanwal, Madiha, Hojny, Jan, Zemankova, Petra, Borecka, Marianna, Cerna, Leona, Cerna, Marta, Cerna, Monika, Curtisova, Vaclava, Dolezalova, Tatana, Duskova, Petra, Foretova, Lenka, Havranek, Ondrej, Horackova, Klara, Hovhannisyan, Milena, Hruskova, Lucie, Chvojka, Stepan, Janatova, Marketa, Janikova, Maria, Jelinkova, Sandra, Just, Pavel, Kalousova, Marta, Kleiblova, Petra, Kosarova, Marcela, Koudova, Monika, Kral, Jan, Krausova, Michaela, Krutilkova, Vera, Machackova, Eva, Matejkova, Katerina, Michalovska, Renata, Nehasil, Petr, Nemcova, Barbora, Novotny, Jan, Palek, Matous, Pesek, Pavel, Safarikova, Marketa, Scheinost, Ondrej, Springer, Drahomira, Stolarova, Lenka, Stranecky, Viktor, Subrt, Ivan, Tavandzis, Spiros, Tureckova, Eva, Vesela, Kamila, Vlckova, Zdenka, Vocka, Michal, Zima, Tomas, Macurek, Libor, Kleibl, Zdenek

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Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon von Burocziova, Monika, Burdova, Kamila, Martinikova, Andra S., Kasparek, Petr, Kleiblova, Petra, Danielsen, Stine A., Borecka, Marianna, Jenikova, Gabriela, Janečková, Lucie, Pavel, Jozef, Zemankova, Petra, Schneiderova, Michaela, Schwarzova, Lucie, Ticha, Ivana, Sun, Xiao-Feng, Jiraskova, Katerina, Liska, Vaclav, Vodickova, Ludmila, Vodicka, Pavel, Sedlacek, Radislav, Kleibl, Zdenek, Lothe, Ragnhild A., Korinek, Vladimír, Macurek, Libor

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Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic von Soukupová, Jana, Lhotová, Klára, Zemánková, Petra, Vočka, Michal, Janatová, Markéta, Stolařová, Lenka, Borecká, Marianna, Kleiblová, Petra, Macháčková, Eva, Foretová, Lenka, Koudová, Monika, Lhota, Filip, Tavandzis, Spiros, Stránecký, Viktor, Veselá, Kamila, Panczak, Aleš, Kotlas, Jaroslav, Kleibl, Zdeněk

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Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition – Mutation Types and their Biological and Clinical Relevance von Kleiblová, Petra, Stolařová, Lenka, Křížová, Kateřina, Lhota, Filip, Jan, Hojný, Zemánková, Petra, Havránek, Ondřej, Vočka, Michal, Černá, Marta, Lhotová, Klára, Borecká, Marianna, Janatová, Markéta, Soukupová, Jana, Ševčík, Jan, Zimovjanová, Martina, Kotlas, Jaroslav, Panczak, Aleš, Veselá, Kamila, Červenková, Jana, Schneiderová, Michaela, Burócziová, Monika, Burdová, Kamila, Stránecký, Viktor, Foretová, Lenka, Macháčková, Eva, Tavandzis, Spiros, Kmoch, Stanislav, Macůrek, Libor, Kleibl, Zdeněk

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Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer von Kleiblova, Petra, Stolarova, Lenka, Krizova, Katerina, Lhota, Filip, Hojny, Jan, Zemankova, Petra, Havranek, Ondrej, Vocka, Michal, Cerna, Marta, Lhotova, Klara, Borecka, Marianna, Janatova, Marketa, Soukupova, Jana, Sevcik, Jan, Zimovjanova, Martina, Kotlas, Jaroslav, Panczak, Ales, Vesela, Kamila, Cervenkova, Jana, Schneiderova, Michaela, Burocziova, Monika, Burdova, Kamila, Stranecky, Viktor, Foretova, Lenka, Machackova, Eva, Tavandzis, Spiros, Kmoch, Stanislav, Macurek, Libor, Kleibl, Zdenek

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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 von 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

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PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic von Janatová, M, Borecká, M, Soukupová, J, Kleiblová, P, Stříbrná, J, Vočka, M, Zemánková, P, Panczak, A, Veselá, K, Souček, P, Foretová, L, Kleibl, Z

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk von Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B, Vega, Ana, Rossing, Maria

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Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer von Lhotova, Klara, Stolarova, Lenka, Zemankova, Petra, Vocka, Michal, Janatova, Marketa, Borecka, Marianna, Cerna, Marta, Jelinkova, Sandra, Kral, Jan, Volkova, Zuzana, Urbanova, Marketa, Kleiblova, Petra, Machackova, Eva, Foretova, Lenka, Hazova, Jana, Vasickova, Petra, Lhota, Filip, Koudova, Monika, Cerna, Leona, Tavandzis, Spiros, Indrakova, Jana, Hruskova, Lucie, Kosarova, Marcela, Vrtel, Radek, Stranecky, Viktor, Kmoch, Stanislav, Zikan, Michal, Macurek, Libor, Kleibl, Zdenek, Soukupova, Jana

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ENIGMA CHEK2 gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk von Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Matsuda, Koichi, Kamatani, Yoichiro, Morisaki, Takayuki, Nagai, Akiko, Muto, Kaori, Murakami, Yoshinori, Furukawa, Yoichi, Yamanashi, Yuji, Nakamura, Yusuke, Mushiroda, Taisei, Momozawa, Yukihide, Tanaka, Toshihiro, Ohnishi, Yozo, Kubo, Michiaki, Higashiue, Shinichi, Kobayashi, Shuzo, Minami, Shiro, Yamaguhci, Hiroki, Arai, Hajime, Yamaji, Ken, Okazaki, Yasushi, Asai, Satoshi, Takahashi, Yasuo, Fujioka, Tomoaki, Obara, Wataru, Mori, Seijiro, Murayama, Shigeo, Nagayama, Satoshi, Miki, Yoshio, Masumoto, Akihide, Yamada, Akira, Nishizawa, Yasuko, Higashiyama, Masahiko, Kutsumi, Hiromu, Koretsune, Yukihiro, Yoshiyama, Takashi, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Borecka, Marianna, Cerna, Marta, Hovhannisyan, Milena, Jelinkova, Sandra, Nehasil, Petr, Foretova, Lenka, Machackova, Eva, Krutilkova, Vera, Tavandzis, Spiros, Cerna, Leona, Chvojka, Stepan, Koudova, Monika, Puchmajerova, Alena, Havranek, Ondrej, Novotny, Jan, Vesela, Kamila, Vocka, Michal, Hruskova, Lucie, Michalovska, Renata, Schwetzova, Denisa, Vlckova, Zdenka, Cerna, Monika, Hejnalova, Marketa, Jedlickova, Nikol, Subrt, Ivan, Zavoral, Tomas, Kosarova, Marcela, Vacinova, Gabriela, Janikova, Maria, Kratochvilova, Romana, Curtisova, Vaclava, Vrtel, Radek, Scheinost, Ondrej, Duskova, Petra, Stranecky, Viktor, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa

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Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in... von Bezdicka, Martin, Kleiblova, Petra, Soucek, Jiri, Borecka, Marianna, El-Lababidi, Eva, Smrz, Daniel, Rataj, Michal, Sumnik, Zdenek, Malikova, Jana, Soucek, Ondrej

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Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma von Horackova, Klara, Frankova, Sona, Zemankova, Petra, Nehasil, Petr, Cerna, Marta, Neroldova, Magdalena, Otahalova, Barbora, Kral, Jan, Hovhannisyan, Milena, Stranecky, Viktor, Zima, Tomas, Safarikova, Marketa, Kalousova, Marta, Consortium, Czecanca, Novotny, Jan, Sperl, Jan, Borecka, Marianna, Jelinkova, Sandra, Vocka, Michal, Janatova, Marketa, Kleiblova, Petra, Kleibl, Zdenek, Jirsa, Milan, Soukupova, Jana

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Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers von Vocka, Michal, Zimovjanova, Martina, Bielcikova, Zuzana, Tesarova, Petra, Petruzelka, Lubos, Mateju, Martin, Krizova, Ludmila, Kotlas, Jaroslav, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Kleiblova, Petra, Novotny, Jan, Konopasek, Bohuslav, Chodacka, Martina, Brychta, Milan, Sochor, Marek, Smejkalova-Musilova, Denisa, Cmejlova, Vlastimila, Kozevnikovova, Renata, Miskarova, Lenka, Argalacsova, Sona, Stolarova, Lenka, Lhotova, Klara, Borecka, Marianna, Kleibl, Zdenek

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Germline multigene panel testing of patients with endometrial cancer von Machackova, Eva, Otahalova, Barbora, Soukupova, Jana, Krutilkova, Vera, Kleiblova, Petra, Novotny, Jan, Zima, Tomas, Tavandzis, Spiros, Vocka, Michal, Zikan, Michal, Safarikova, Marketa, Kosarova, Marcela, Koudova, Monika, Chvojka, Stepan, Jelinkova, Sandra, Hovhannisyan, Milena, Subrt, Ivan, Borecka, Marianna, Duskova, Petra, Kalousova, Marta, Stranecky, Viktor, Havranek, Ondrej, Zemankova, Petra, Puchmajerova, Alena, Horackova, Klara, Dostalek, Lukas, Kleibl, Zdenek, Foretova, Lenka, Slama, Jiri, Janatova, Marketa, Nehasil, Petr, Kral, Jan, Cerna, Marta, Cerna, Leona

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Validation of CZECANCA von Soukupova, Jana, Zemankova, Petra, Lhotova, Klara, Janatova, Marketa, Borecka, Marianna, Stolarova, Lenka, Lhota, Filip, Foretova, Lenka, Machackova, Eva, Stranecky, Viktor, Tavandzis, Spiros, Kleiblova, Petra, Vocka, Michal, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek

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Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients von Wieme, Greet, Kral, Jan, Rosseel, Toon, Zemankova, Petra, Parton, Bram, Vocka, Michal, Van Heetvelde, Mattias, Kleiblova, Petra, Blaumeiser, Bettina, Soukupova, Jana, van den Ende, Jenneke, Nehasil, Petr, Tejpar, Sabine, Borecka, Marianna, Gómez García, Encarna B., Blok, Marinus J., Safarikova, Marketa, Kalousova, Marta, Geboes, Karen, De Putter, Robin, Poppe, Bruce, De Leeneer, Kim, Kleibl, Zdenek, Janatova, Marketa, Claes, Kathleen B. M.

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Germline multigene panel testing of patients with endometrial cancer von Kral, Jan, Jelinkova, Sandra, Zemankova, Petra, Vocka, Michal, Borecka, Marianna, Cerna, Leona, Cerna, Marta, Dostalek, Lukas, Duskova, Petra, Foretova, Lenka, Havranek, Ondrej, Horackova, Klara, Hovhannisyan, Milena, Chvojka, Stepan, Kalousova, Marta, Kosarova, Marcela, Koudova, Monika, Krutilkova, Vera, Machackova, Eva, Nehasil, Petr, Novotny, Jan, Otahalova, Barbora, Puchmajerova, Alena, Safarikova, Marketa, Slama, Jiri, Stranecky, Viktor, Subrt, Ivan, Tavandzis, Spiros, Zikan, Michal, Zima, Tomas, Soukupova, Jana, Kleiblova, Petra, Kleibl, Zdenek, Janatova, Marketa

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