18 results on '"Jelinkova, Sandra"'
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2. A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
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Zemankova, Petra, primary, Cerna, Marta, additional, Horackova, Klara, additional, Ernst, Corinna, additional, Soukupova, Jana, additional, Borecka, Marianna, additional, Blümcke, Britta, additional, Cerna, Leona, additional, Cerna, Monika, additional, Curtisova, Vaclava, additional, Dolezalova, Tatana, additional, Duskova, Petra, additional, Dvorakova, Lenka, additional, Foretova, Lenka, additional, Havranek, Ondrej, additional, Hauke, Jan, additional, Hahnen, Eric, additional, Hodulova, Miloslava, additional, Hovhannisyan, Milena, additional, Hruskova, Lucie, additional, Janatova, Marketa, additional, Janikova, Maria, additional, Jelinkova, Sandra, additional, Just, Pavel, additional, Kosarova, Marcela, additional, Koudova, Monika, additional, Krutilkova, Vera, additional, Machackova, Eva, additional, Matejkova, Katerina, additional, Michalovska, Renata, additional, Misove, Adela, additional, Nehasil, Petr, additional, Nemcova, Barbora, additional, Novotny, Jan, additional, Panczak, Ales, additional, Pesek, Pavel, additional, Scheinost, Ondrej, additional, Springer, Drahomira, additional, Stastna, Barbora, additional, Stranecky, Viktor, additional, Subrt, Ivan, additional, Tavandzis, Spiros, additional, Tureckova, Eva, additional, Vesela, Kamila, additional, Vlckova, Zdenka, additional, Vocka, Michal, additional, Wappenschmidt, Barbara, additional, Zima, Tomas, additional, Kleibl, Zdenek, additional, and Kleiblova, Petra, additional
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- 2024
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3. Population‐specific validation and comparison of the performance of 77‐ and 313‐variant polygenic risk scores for breast cancer risk prediction
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Hovhannisyan, Milena, primary, Zemankova, Petra, additional, Nehasil, Petr, additional, Matejkova, Katerina, additional, Borecka, Marianna, additional, Cerna, Marta, additional, Dolezalova, Tatana, additional, Dvorakova, Lenka, additional, Foretova, Lenka, additional, Horackova, Klara, additional, Jelinkova, Sandra, additional, Just, Pavel, additional, Kalousova, Marta, additional, Kral, Jan, additional, Machackova, Eva, additional, Nemcova, Barbora, additional, Safarikova, Marketa, additional, Springer, Drahomira, additional, Stastna, Barbora, additional, Tavandzis, Spiros, additional, Vocka, Michal, additional, Zima, Tomas, additional, Soukupova, Jana, additional, Kleiblova, Petra, additional, Ernst, Corinna, additional, Kleibl, Zdenek, additional, and Janatova, Marketa, additional
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- 2024
- Full Text
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4. Figure 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
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- 2023
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5. Figure 3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
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- 2023
- Full Text
- View/download PDF
6. Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
- Published
- 2023
- Full Text
- View/download PDF
7. Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
- Published
- 2023
- Full Text
- View/download PDF
8. Data from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
- Author
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
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- 2023
- Full Text
- View/download PDF
9. Figure 4 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
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- 2023
- Full Text
- View/download PDF
10. Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
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- 2023
- Full Text
- View/download PDF
11. Figure 2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
- Published
- 2023
- Full Text
- View/download PDF
12. Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
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Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
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- 2023
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13. Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
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Horackova, Klara, primary, Frankova, Sona, additional, Zemankova, Petra, additional, Nehasil, Petr, additional, Cerna, Marta, additional, Neroldova, Magdalena, additional, Otahalova, Barbora, additional, Kral, Jan, additional, Hovhannisyan, Milena, additional, Stranecky, Viktor, additional, Zima, Tomas, additional, Safarikova, Marketa, additional, Kalousova, Marta, additional, Consortium, CZECANCA, additional, Novotny, Jan, additional, Sperl, Jan, additional, Borecka, Marianna, additional, Jelinkova, Sandra, additional, Vocka, Michal, additional, Janatova, Marketa, additional, Kleiblova, Petra, additional, Kleibl, Zdenek, additional, Jirsa, Milan, additional, and Soukupova, Jana, additional
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- 2022
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14. Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
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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, and Janatova, Marketa
- Subjects
GENETIC mutation ,PATIENTS ,CANCER patients ,LIVER transplantation ,HEPATOCELLULAR carcinoma ,TRANSPLANTATION of organs, tissues, etc. - Abstract
Simple Summary: Hepatocellular carcinoma (HCC) is the fourth most common cause of cancer-related deaths worldwide. HCC mostly results from liver cirrhosis and its genetic predisposition is believed to be rare. A liver transplantation is considered a curative therapy for HCC; however, de novo tumor development is a feared complication in immunosuppressed transplant recipients. Having analyzed the prevalence of pathogenic/likely pathogenic germline variants in cancer-predisposition genes in 334 HCC patients considered for liver transplantation, we found only 7/334 (2.1%) carriers of pathogenic variants in established cancer-predisposition genes (PMS2, 4×NBN, FH or RET). Interestingly, two MRN complex genes (NBN and RAD50) were significantly more frequent among patients over controls. Therefore, we conclude that the genetic predisposition to HCC is rare and HCC does not meet the criteria for routine germline genetic testing; however, germline testing could be considered in liver transplant recipients as the variant carriers may benefit from tailored follow-up or targeted therapy. Hepatocellular carcinoma (HCC) mainly stems from liver cirrhosis and its genetic predisposition is believed to be rare. However, two recent studies describe pathogenic/likely pathogenic germline variants (PV) in cancer-predisposition genes (CPG). As the risk of de novo tumors might be increased in PV carriers, especially in immunosuppressed patients after a liver transplantation, we analyzed the prevalence of germline CPG variants in HCC patients considered for liver transplantation. Using the panel NGS targeting 226 CPGs, we analyzed germline DNA from 334 Czech HCC patients and 1662 population-matched controls. We identified 48 PVs in 35 genes in 47/334 patients (14.1%). However, only 7/334 (2.1%) patients carried a PV in an established CPG (PMS2, 4×NBN, FH or RET). Only the PV carriers in two MRN complex genes (NBN and RAD50) were significantly more frequent among patients over controls. We found no differences in clinicopathological characteristics between carriers and non-carriers. Our study indicated that the genetic component of HCC is rare. The HCC diagnosis itself does not meet criteria for routine germline CPG genetic testing. However, a low proportion of PV carriers may benefit from a tailored follow-up or targeted therapy and germline testing could be considered in liver transplant recipients. [ABSTRACT FROM AUTHOR]
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- 2023
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15. Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes
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Stolarova, Lenka, Jelinkova, Sandra, Storchova, Radka, Machackova, Eva, Zemankova, Petra, Vocka, Michal, Kodet, Ondrej, Kral, Jan, Cerna, Marta, Volkova, Zuzana, Janatova, Marketa, Soukupova, Jana, Stranecky, Viktor, Dundr, Pavel, Foretova, Lenka, Macurek, Libor, Kleiblova, Petra, and Kleibl, Zdenek
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panel sequencing ,lcsh:Biology (General) ,NGS ,melanoma ,germline mutations ,neoplasms ,familial melanoma ,hereditary cancer predisposition ,lcsh:QH301-705.5 ,Article - Abstract
Cutaneous melanoma is the deadliest skin malignity with a rising prevalence worldwide. Patients carrying germline mutations in melanoma-susceptibility genes face an increased risk of melanoma and other cancers. To assess the spectrum of germline variants, we analyzed 264 Czech melanoma patients indicated for testing due to early melanoma (at POT1 and CHEK2 variants were characterized by functional assays. Mutations in clinically relevant genes were significantly more frequent in melanoma patients than in controls (31/264; 11.7% vs. 58/1479; 3.9%; p = 2.0 × 10−6). A total of 9 patients (3.4%) carried mutations in high-to-moderate melanoma risk genes (CDKN2A, POT1, ACD) and 22 (8.3%) patients in other cancer syndrome genes (NBN, BRCA1/2, CHEK2, ATM, WRN, RB1). Mutations in high-to-moderate melanoma risk genes (OR = 52.2; 95%CI 6.6–413.1; p = 3.2 × 10−7) and in other cancer syndrome genes (OR = 2.3; 95%CI 1.4–3.8; p = 0.003) were significantly associated with melanoma risk. We found an increased potential to carry these mutations (OR = 2.9; 95%CI 1.2–6.8) in patients with double primary melanoma, melanoma and other primary cancer, but not in patients with early age at onset. The analysis revealed affected genes in Czech melanoma patients and identified individuals who may benefit from genetic testing and future surveillance management of mutation carriers.
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- 2020
16. Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
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Lhotova, Klara, primary, Stolarova, Lenka, additional, Zemankova, Petra, additional, Vocka, Michal, additional, Janatova, Marketa, additional, Borecka, Marianna, additional, Cerna, Marta, additional, Jelinkova, Sandra, additional, Kral, Jan, additional, Volkova, Zuzana, additional, Urbanova, Marketa, additional, Kleiblova, Petra, additional, Machackova, Eva, additional, Foretova, Lenka, additional, Hazova, Jana, additional, Vasickova, Petra, additional, Lhota, Filip, additional, Koudova, Monika, additional, Cerna, Leona, additional, Tavandzis, Spiros, additional, Indrakova, Jana, additional, Hruskova, Lucie, additional, Kosarova, Marcela, additional, Vrtel, Radek, additional, Stranecky, Viktor, additional, Kmoch, Stanislav, additional, Zikan, Michal, additional, Macurek, Libor, additional, Kleibl, Zdenek, additional, and Soukupova, Jana, additional
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- 2020
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17. Germline multigene panel testing of patients with endometrial cancer.
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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, and Nehasil, Petr
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ENDOMETRIAL cancer , *NUCLEOTIDE sequencing , *HEREDITARY nonpolyposis colorectal cancer , *CANCER patients , *GERM cells , *GENETIC testing - Abstract
Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes. Gene-level risks were calculated using 1,662 population-matched controls (PMCs). Patients were sub-categorized to fulfill GGT criteria for LS, HBOC, both or none. A total of 60 patients (11.4%) carried PV in LS (5.1%) and HBOC (6.6%) predisposition genes, including two carriers of double PV. PV in LS genes conferred a significantly higher EC risk [odds ratio (OR), 22.4; 95% CI, 7.8-64.3; P=1.8×10−17] than the most frequently altered HBOC genes BRCA1 (OR, 3.9; 95% CI, 1.6-9.5; P=0.001), BRCA2 (OR, 7.4; 95% CI, 1.9-28.9; P=0.002) and CHEK2 (OR, 3.2; 95% CI, 1.0-9.9; P=0.04). Furthermore, >6% of patients with EC not fulfilling LS or HBOC GGT indication criteria carried a PV in a clinically relevant gene. Carriers of PV in LS genes had a significantly lower age of EC onset than non-carriers (P=0.01). Another 11.0% of patients carried PV in a candidate gene (the most frequent were FANCA and MUTYH); however, their individual frequencies did not differ from PMCs (except for aggregated frequency of loss-of-function variants in POLE/POLD1; OR, 10.44; 95% CI, 1.1-100.5; P=0.012). The present study demonstrated the importance of GGT in patients with EC. The increased risk of EC of PV carriers in HBOC genes suggests that the diagnosis of EC should be included in the HBOC GGT criteria. [ABSTRACT FROM AUTHOR]
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- 2023
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18. A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.
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Soukupova J, Stastna B, Kanwal M, Hojny J, Zemankova P, Borecka M, Cerna L, Cerna M, Cerna M, Curtisova V, Dolezalova T, Duskova P, Foretova L, Havranek O, Horackova K, Hovhannisyan M, Hruskova L, Chvojka S, Janatova M, Janikova M, Jelinkova S, Just P, Kalousova M, Kleiblova P, Kosarova M, Koudova M, Kral J, Krausova M, Krutilkova V, Machackova E, Matejkova K, Michalovska R, Nehasil P, Nemcova B, Novotny J, Palek M, Pesek P, Safarikova M, Scheinost O, Springer D, Stolarova L, Stranecky V, Subrt I, Tavandzis S, Tureckova E, Vesela K, Vlckova Z, Vocka M, Zima T, Macurek L, and Kleibl Z
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- Humans, Female, Middle Aged, Adult, DNA Repair genetics, Case-Control Studies, Aged, Germ-Line Mutation, Genetic Predisposition to Disease, Breast Neoplasms genetics, Ovarian Neoplasms genetics, Fanconi Anemia Complementation Group G Protein genetics
- Abstract
Background: Monoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the role of GPVs in 17 other FA genes remains unclear., Methods: Here, we investigated the association of germline variants in FANCG/XRCC9 with BC and OC risk., Results: The frequency of truncating GPVs in FANCG did not differ between BC (20/10,204; 0.20%) and OC (8/2966; 0.27%) patients compared to controls (6/3250; 0.18%). In addition, only one out of five tumor samples showed loss-of-heterozygosity of the wild-type FANCG allele. Finally, none of the nine functionally tested rare recurrent missense FANCG variants impaired DNA repair activities (FANCD2 monoubiquitination and FANCD2 foci formation) upon DNA damage, in contrast to all tested FANCG truncations., Conclusion: Our study suggests that heterozygous germline FANCG variants are unlikely to contribute to the development of BC or OC., (© 2024 The Author(s). Cancer Medicine published by John Wiley & Sons Ltd.)
- Published
- 2024
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