Search

Your search keyword '"Kleiblova, Petra"' showing total 204 results
Start Over Author "Kleiblova, Petra"
204 results on '"Kleiblova, Petra"'

2. A comprehensive analysis of germline predisposition to early-onset ovarian cancer

Author

Horackova, Klara, Zemankova, Petra, Nehasil, Petr, Vocka, Michal, Hovhannisyan, Milena, Matejkova, Katerina, Janatova, Marketa, Cerna, Marta, Kleiblova, Petra, Jelinkova, Sandra, Stastna, Barbora, Just, Pavel, Dolezalova, Tatana, Nemcova, Barbora, Urbanova, Marketa, Koudova, Monika, Hazova, Jana, Machackova, Eva, Foretova, Lenka, Stranecky, Viktor, Zikan, Michal, Kleibl, Zdenek, and Soukupova, Jana

Published
2024
Full Text
View/download PDF

3. A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

Author

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

Published
2024
Full Text
View/download PDF

5. Germline pathogenic variants in the MRE11, RAD50, and NBN (MRN) genes in cancer predisposition: A systematic review and meta‐analysis.

Author

Stastna, Barbora, Dolezalova, Tatana, Matejkova, Katerina, Nemcova, Barbora, Zemankova, Petra, Janatova, Marketa, Kleiblova, Petra, Soukupova, Jana, and Kleibl, Zdenek

Abstract

The MRE11, RAD50, and NBN genes encode the MRN complex sensing DNA breaks and directing their repair. While carriers of biallelic germline pathogenic variants (gPV) develop rare chromosomal instability syndromes, the cancer risk in heterozygotes remains controversial. We performed a systematic review and meta‐analysis of 53 studies in patients with different cancer diagnoses to better understand the cancer risk. We found an increased risk (odds ratio, 95% confidence interval) for gPV carriers in NBN for melanoma (7.14; 3.30–15.43), pancreatic cancer (4.03; 2.14–7.58), hematological tumors (3.42; 1.14–10.22), and prostate cancer (2.44, 1.84–3.24), but a low risk for breast cancer (1.29; 1.00–1.66) and an insignificant risk for ovarian cancer (1.53; 0.76–3.09). We found no increased breast cancer risk in carriers of gPV in RAD50 (0.93; 0.74–1.16; except of c.687del carriers) and MRE11 (0.87; 0.66–1.13). The secondary burden analysis compared the frequencies of gPV in MRN genes in patients from 150 studies with those in the gnomAD database. In NBN gPV carriers, this analysis additionally showed a high risk for brain tumors (5.06; 2.39–9.52), a low risk for colorectal (1.64; 1.26–2.10) and hepatobiliary (2.16; 1.02–4.06) cancers, and no risk for endometrial, and gastric cancer. The secondary burden analysis showed also a moderate risk for ovarian cancer (3.00; 1.27–6.08) in MRE11 gPV carriers, and no risk for ovarian and hepatobiliary cancers in RAD50 gPV carriers. These findings provide a robust clinical evidence of cancer risks to guide personalized clinical management in heterozygous carriers of gPV in the MRE11, RAD50, and NBN genes. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

7. Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases: a prospective, single-center study from the Czech Republic

Author

Slaba, Katerina, primary, Pokorna, Petra, additional, Jugas, Robin, additional, Palova, Hana, additional, Prochazkova, Dagmar, additional, Aulicka, Stefania, additional, Danhofer, Pavlina, additional, Horak, Ondrej, additional, Tuckova, Jana, additional, Kleiblova, Petra, additional, Gailyova, Renata, additional, Hrunka, Matej, additional, Jouza, Martin, additional, Pinkova, Blanka, additional, Papez, Jan, additional, Konecna, Petra, additional, Zidkova, Jana, additional, Stourac, Petr, additional, Sterba, Jaroslav, additional, Demlova, Regina, additional, Demlova, Eva, additional, Jabandziev, Petr, additional, and Slaby, Ondrej, additional

Published
2024
Full Text
View/download PDF

8. Population‐specific validation and comparison of the performance of 77‐ and 313‐variant polygenic risk scores for breast cancer risk prediction

Author

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

Published
2024
Full Text
View/download PDF

9. #2918 Genetic background of kidney graft cancer

Author

Bloudickova, Silvie Rajnochova, primary, Novotna, Anna, additional, Horackova, Klara, additional, Zemankova, Petra, additional, Nehasil, Petr, additional, Viklicky, Ondrej, additional, and Kleiblova, Petra, additional

Published
2024
Full Text
View/download PDF

11. Figure 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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 3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

13. Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

14. Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

15. Data from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

16. Figure 4 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

17. Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

18. Figure 2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

19. Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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

20. Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?

Author

Horackova, Klara, Janatova, Marketa, Kleiblova, Petra, Kleibl, Zdenek, and Soukupova, Jana

Subjects
OVARIAN cancer, HEREDITARY nonpolyposis colorectal cancer, HERITABILITY, MOSAICISM, BRCA genes, GERM cells
Abstract

Ovarian cancer (OC) is one of the leading causes of cancer-related deaths in women. Most patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult OC diagnosed ≤30 years is rare, accounting for less than 5% of all OC cases. The most significant risk factor for OC development are germline pathogenic/likely pathogenic variants (GPVs) in OC predisposition genes (including BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, Lynch syndrome genes, or BRIP1), which contribute to the development of over 20% of all OC cases. GPVs in BRCA1/BRCA2 are the most prevalent. The presence of a GPV directs tailored cancer risk-reducing strategies for OC patients and their relatives. Identification of OC patients with GPVs can also have therapeutic consequences. Despite the general assumption that early cancer onset indicates higher involvement of hereditary cancer predisposition, the presence of GPVs in early-onset OC is rare (<10% of patients), and their heritability is uncertain. This review summarizes the current knowledge on the genetic predisposition to early-onset OC, with a special focus on epithelial OC, and suggests other alternative genetic factors (digenic, oligogenic, polygenic heritability, genetic mosaicism, imprinting, etc.) that may influence the development of early-onset OC in adult women lacking GPVs in known OC predisposition genes. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

23. ENIGMA CHEK2gether Project:A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

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, Japan, Biobank, 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, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, 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, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek, 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, Japan, Biobank, 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, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, 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, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, and Kleibl, Zdenek

Abstract

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with n, Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ~ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N ¼ 102), functionally intermediate (N ¼ 12), or functionally wild-type (WT)–like (N ¼ 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk

Published
2023

24. Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data

Author

Meulendijks, Didier, Henricks, Linda M, Sonke, Gabe S, Deenen, Maarten J, Froehlich, Tanja K, Amstutz, Ursula, Largiadèr, Carlo R, Jennings, Barbara A, Marinaki, Anthony M, Sanderson, Jeremy D, Kleibl, Zdenek, Kleiblova, Petra, Schwab, Matthias, Zanger, Ulrich M, Palles, Claire, Tomlinson, Ian, Gross, Eva, van Kuilenburg, André B P, Punt, Cornelis J A, Koopman, Miriam, Beijnen, Jos H, Cats, Annemieke, and Schellens, Jan H M

Published
2015
Full Text
View/download PDF

25. Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon

Author

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, and Macurek, Libor

Published
2019
Full Text
View/download PDF

26. Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma

Author

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

Published
2022
Full Text
View/download PDF

27. Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

Author

Wieme, Greet, primary, Kral, Jan, additional, Rosseel, Toon, additional, Zemankova, Petra, additional, Parton, Bram, additional, Vocka, Michal, additional, Van Heetvelde, Mattias, additional, Kleiblova, Petra, additional, Blaumeiser, Bettina, additional, Soukupova, Jana, additional, van den Ende, Jenneke, additional, Nehasil, Petr, additional, Tejpar, Sabine, additional, Borecka, Marianna, additional, Gómez García, Encarna B., additional, Blok, Marinus J., additional, Safarikova, Marketa, additional, Kalousova, Marta, additional, Geboes, Karen, additional, De Putter, Robin, additional, Poppe, Bruce, additional, De Leeneer, Kim, additional, Kleibl, Zdenek, additional, Janatova, Marketa, additional, and Claes, Kathleen B. M., additional

Published
2021
Full Text
View/download PDF

29. CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Author

Stolarova, Lenka, Kleiblova, Petra, Janatova, Marketa, Soukupova, Jana, Zemankova, Petra, Macurek, Libor, and Kleibl, Zdenek

Subjects
checkpoint kinase 2, CHK2, renal cancer, WIP1, colorectal cancer, Review, prostate cancer, breast cancer, hereditary cancer, germline mutation, lcsh:Biology (General), KAP1, thyroid cancer, skin and connective tissue diseases, lcsh:QH301-705.5, CHEK2
Abstract

Germline alterations in many genes coding for proteins regulating DNA repair and DNA damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as pathogenic factors in hereditary cancer predisposition. The ATM-CHEK2-p53 axis has been documented as a backbone for DDR and hypothesized as a barrier against cancer initiation. However, although CHK2 kinase coded by the CHEK2 gene expedites the DDR signal, its function in activation of p53-dependent cell cycle arrest is dispensable. CHEK2 mutations rank among the most frequent germline alterations revealed by germline genetic testing for various hereditary cancer predispositions, but their interpretation is not trivial. From the perspective of interpretation of germline CHEK2 variants, we review the current knowledge related to the structure of the CHEK2 gene, the function of CHK2 kinase, and the clinical significance of CHEK2 germline mutations in patients with hereditary breast, prostate, kidney, thyroid, and colon cancers.

Published
2020

33. Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes

Author

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

Subjects
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.

Published
2020

34. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Author

Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., Tischkowitz, Marc, Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., and Tischkowitz, Marc

Abstract

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 x 10(-76)), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 x 10(-3)), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 x 10(-3)), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 x 10(-2)). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 x 10(-3)). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical

Published
2020

35. The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Author

Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Andrieu, Nadine, Azzollini, Jacopo, Balmaña, Judith, Barroso, Alicia, Benítez, Javier, Bertelsen, Birgitte, Blanco, Ana, Bonanni, Bernardo, Borg, Åke, Brunet, Joan, Calistri, Daniele, Calvello, Mariarosaria, Chvojka, Stepan, Cortesi, Laura, Darder, Esther, Del Valle, Jesús, Diez, Orland, Eon-Marchais, Séverine, Fostira, Florentia, Gensini, Francesca, Houdayer, Claude, Janatova, Marketa, Kiiski, Johanna I, Konstantopoulou, Irene, Kubelka-Sabit, Katerina, Lázaro, Conxi, Lesueur, Fabienne, Manoukian, Siranoush, Marcinkute, Ruta, Mickys, Ugnius, Moncoutier, Virginie, Myszka, Aleksander, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Norvilas, Rimvydas, Olah, Edith, Osorio, Ana, Papi, Laura, Peissel, Bernard, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Pócza, Timea, Rossing, Maria, Rudaitis, Vilius, Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Andrieu, Nadine, Azzollini, Jacopo, Balmaña, Judith, Barroso, Alicia, Benítez, Javier, Bertelsen, Birgitte, Blanco, Ana, Bonanni, Bernardo, Borg, Åke, Brunet, Joan, Calistri, Daniele, Calvello, Mariarosaria, Chvojka, Stepan, Cortesi, Laura, Darder, Esther, Del Valle, Jesús, Diez, Orland, Eon-Marchais, Séverine, Fostira, Florentia, Gensini, Francesca, Houdayer, Claude, Janatova, Marketa, Kiiski, Johanna I, Konstantopoulou, Irene, Kubelka-Sabit, Katerina, Lázaro, Conxi, Lesueur, Fabienne, Manoukian, Siranoush, Marcinkute, Ruta, Mickys, Ugnius, Moncoutier, Virginie, Myszka, Aleksander, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Norvilas, Rimvydas, Olah, Edith, Osorio, Ana, Papi, Laura, Peissel, Bernard, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Pócza, Timea, Rossing, Maria, and Rudaitis, Vilius

Abstract

Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2-4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.

Published
2020

37. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Author

Slaba, Katerina, primary, Noskova, Hana, additional, Vesela, Petra, additional, Tuckova, Jana, additional, Jicinska, Hana, additional, Honzik, Tomas, additional, Hansikova, Hana, additional, Kleiblova, Petra, additional, Stourac, Petr, additional, Jabandziev, Petr, additional, Slaby, Ondrej, additional, and Prochazkova, Dagmar, additional

Published
2020
Full Text
View/download PDF

38. Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Author

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

Published
2020
Full Text
View/download PDF

39. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Author

Yang, Xin, primary, Leslie, Goska, additional, Doroszuk, Alicja, additional, Schneider, Sandra, additional, Allen, Jamie, additional, Decker, Brennan, additional, Dunning, Alison M., additional, Redman, James, additional, Scarth, James, additional, Plaskocinska, Inga, additional, Luccarini, Craig, additional, Shah, Mitul, additional, Pooley, Karen, additional, Dorling, Leila, additional, Lee, Andrew, additional, Adank, Muriel A., additional, Adlard, Julian, additional, Aittomäki, Kristiina, additional, Andrulis, Irene L., additional, Ang, Peter, additional, Barwell, Julian, additional, Bernstein, Jonine L., additional, Bobolis, Kristie, additional, Borg, Åke, additional, Blomqvist, Carl, additional, Claes, Kathleen B.M., additional, Concannon, Patrick, additional, Cuggia, Adeline, additional, Culver, Julie O., additional, Damiola, Francesca, additional, de Pauw, Antoine, additional, Diez, Orland, additional, Dolinsky, Jill S., additional, Domchek, Susan M., additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Fostira, Florentia, additional, Garber, Judy, additional, Golmard, Lisa, additional, Goode, Ellen L., additional, Gruber, Stephen B., additional, Hahnen, Eric, additional, Hake, Christopher, additional, Heikkinen, Tuomas, additional, Hurley, Judith E., additional, Janavicius, Ramunas, additional, Kleibl, Zdenek, additional, Kleiblova, Petra, additional, Konstantopoulou, Irene, additional, Kvist, Anders, additional, Laduca, Holly, additional, Lee, Ann S.G., additional, Lesueur, Fabienne, additional, Maher, Eamonn R., additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, McFarland, Rachel, additional, McKinnon, Wendy, additional, Meindl, Alfons, additional, Metcalfe, Kelly, additional, Mohd Taib, Nur Aishah, additional, Moilanen, Jukka, additional, Nathanson, Katherine L., additional, Neuhausen, Susan, additional, Ng, Pei Sze, additional, Nguyen-Dumont, Tu, additional, Nielsen, Sarah M., additional, Obermair, Florian, additional, Offit, Kenneth, additional, Olopade, Olufunmilayo I., additional, Ottini, Laura, additional, Penkert, Judith, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Ramus, Susan J., additional, Rudaitis, Vilius, additional, Side, Lucy, additional, Silva-Smith, Rachel, additional, Silvestri, Valentina, additional, Skytte, Anne-Bine, additional, Slavin, Thomas, additional, Soukupova, Jana, additional, Tondini, Carlo, additional, Trainer, Alison H., additional, Unzeitig, Gary, additional, Usha, Lydia, additional, van Overeem Hansen, Thomas, additional, Whitworth, James, additional, Wood, Marie, additional, Yip, Cheng Har, additional, Yoon, Sook-Yee, additional, Yussuf, Amal, additional, Zogopoulos, George, additional, Goldgar, David, additional, Hopper, John L., additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul, additional, George, Sophia H.L., additional, Balmaña, Judith, additional, Houdayer, Claude, additional, James, Paul, additional, El-Haffaf, Zaki, additional, Ehrencrona, Hans, additional, Janatova, Marketa, additional, Peterlongo, Paolo, additional, Nevanlinna, Heli, additional, Schmutzler, Rita, additional, Teo, Soo-Hwang, additional, Robson, Mark, additional, Pal, Tuya, additional, Couch, Fergus, additional, Weitzel, Jeffrey N., additional, Elliott, Aaron, additional, Southey, Melissa, additional, Winqvist, Robert, additional, Easton, Douglas F., additional, Foulkes, William D., additional, Antoniou, Antonis C., additional, and Tischkowitz, Marc, additional

Published
2020
Full Text
View/download PDF

42. Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

Author

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, and Kleibl, Zdenek

Subjects
Next-Generation Sequencing, Male, DNA Copy Number Variations, Molecular biology, Bioinformatics, Genetic Causes of Cancer, lcsh:Medicine, DNA fragmentation, DNA replication, Biochemistry, Sensitivity and Specificity, Database and Informatics Methods, Sequencing techniques, INDEL Mutation, Diagnostic Medicine, Neoplastic Syndromes, Hereditary, Medicine and Health Sciences, Genetics, Cancer Detection and Diagnosis, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, DNA sequencing, Genome Sequencing, Genetic Testing, lcsh:Science, Genetic Association Studies, Biology and life sciences, Cancer Risk Factors, lcsh:R, Computational Biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, DNA, Genomics, Genome Analysis, Nucleic acids, Research and analysis methods, Molecular biology techniques, Oncology, Mutation, Female, lcsh:Q, Transcriptome Analysis, Research Article
Abstract

Background Carriers of mutations in hereditary cancer predisposition genes represent a small but clinically important subgroup of oncology patients. The identification of causal germline mutations determines follow-up management, treatment options and genetic counselling in patients’ families. Targeted next-generation sequencing-based analyses using cancer-specific panels in high-risk individuals have been rapidly adopted by diagnostic laboratories. While the use of diagnosis-specific panels is straightforward in typical cases, individuals with unusual phenotypes from families with overlapping criteria require multiple panel testing. Moreover, narrow gene panels are limited by our currently incomplete knowledge about possible genetic dispositions. Methods We have designed a multi-gene panel called CZECANCA (CZEch CAncer paNel for Clinical Application) for a sequencing analysis of 219 cancer-susceptibility and candidate predisposition genes associated with frequent hereditary cancers. Results The bioanalytical and bioinformatics pipeline was validated on a set of internal and commercially available DNA controls showing high coverage uniformity, sensitivity, specificity and accuracy. The panel demonstrates a reliable detection of both single nucleotide and copy number variants. Inter-laboratory, intra- and inter-run replicates confirmed the robustness of our approach. Conclusion The objective of CZECANCA is a nationwide consolidation of cancer-predisposition genetic testing across various clinical indications with savings in costs, human labor and turnaround time. Moreover, the unified diagnostics will enable the integration and analysis of genotypes with associated phenotypes in a national database improving the clinical interpretation of variants.

Published
2018

43. Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Author

Walker, Logan C., primary, Lattimore, Vanessa Lilian, additional, Kvist, Anders, additional, Kleiblova, Petra, additional, Zemankova, Petra, additional, de Jong, Lucy, additional, Wiggins, George A. R., additional, Hakkaart, Christopher, additional, Cree, Simone L., additional, Behar, Raquel, additional, Houdayer, Claude, additional, Investigators, kConFab, additional, Parsons, Michael T., additional, Kennedy, Martin A., additional, Spurdle, Amanda B., additional, and de la Hoya, Miguel, additional

Published
2019
Full Text
View/download PDF

44. Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers

Author

Vocka, Michal, primary, Zimovjanova, Martina, additional, Bielcikova, Zuzana, additional, Tesarova, Petra, additional, Petruzelka, Lubos, additional, Mateju, Martin, additional, Krizova, Ludmila, additional, Kotlas, Jaroslav, additional, Soukupova, Jana, additional, Janatova, Marketa, additional, Zemankova, Petra, additional, Kleiblova, Petra, additional, Novotny, Jan, additional, Konopasek, Bohuslav, additional, Chodacka, Martina, additional, Brychta, Milan, additional, Sochor, Marek, additional, Smejkalova-Musilova, Denisa, additional, Cmejlova, Vlastimila, additional, Kozevnikovova, Renata, additional, Miskarova, Lenka, additional, Argalacsova, Sona, additional, Stolarova, Lenka, additional, Lhotova, Klara, additional, Borecka, Marianna, additional, and Kleibl, Zdenek, additional

Published
2019
Full Text
View/download PDF

45. Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

Author

Kleiblova, Petra, primary, Stolarova, Lenka, additional, Krizova, Katerina, additional, Lhota, Filip, additional, Hojny, Jan, additional, Zemankova, Petra, additional, Havranek, Ondrej, additional, Vocka, Michal, additional, Cerna, Marta, additional, Lhotova, Klara, additional, Borecka, Marianna, additional, Janatova, Marketa, additional, Soukupova, Jana, additional, Sevcik, Jan, additional, Zimovjanova, Martina, additional, Kotlas, Jaroslav, additional, Panczak, Ales, additional, Vesela, Kamila, additional, Cervenkova, Jana, additional, Schneiderova, Michaela, additional, Burocziova, Monika, additional, Burdova, Kamila, additional, Stranecky, Viktor, additional, Foretova, Lenka, additional, Machackova, Eva, additional, Tavandzis, Spiros, additional, Kmoch, Stanislav, additional, Macurek, Libor, additional, and Kleibl, Zdenek, additional

Published
2019
Full Text
View/download PDF

46. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Author

Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca, Teixeira, Manuel, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela, Gomez-Garcia, Encarna B., Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca, Teixeira, Manuel, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela, and Gomez-Garcia, Encarna B.

Abstract

Purpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non-BRCA1/2 genes. Methods Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the United Kingdom and in Italy. Results Responses from 61 cancer genetics practices across 20 countries showed that 16 genes were tested by > 50% of the centers, but only six (PALB2, TP53, PTEN, CHEK2, ATM, and BRIP1) were tested regularly. US centers tested the genes most often, whereas United Kingdom and Italian centers with no direct ENIGMA affiliation at the time of the survey were the least likely to regularly test them. Most centers tested the 16 genes through multigene panels; some centers tested TP53, PTEN, and other cancer syndrome-associated genes individually. Most centers reported (likely) pathogenic variants to patients and would test family members for such variants. Gene-specific guidelines for breast and ovarian cancer risk management were limited and differed among countries, especially with regard to starting age and type of imaging and risk-reducing surgery recommendations. Conclusion Currently, a small number of genes beyond BRCA1/2 are routinely analyzed worldwide, and management guidelines are limited and largely based on expert opinion. To attain clinical implementation of multigene panel testing through evidence-based management practices, it is paramount that clinicians (and patients) participate in international initiatives that share panel testing data, interpret sequence variants, and collect prospective data to underpin risk estimates and evaluate the outcome of risk intervention strategies. (C) 2018 by Ame

Published
2018

47. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Author

Nielsen, Sarah M., primary, Eccles, Diana M., additional, Romero, Iris L., additional, Al-Mulla, Fahd, additional, Balmaña, Judith, additional, Biancolella, Michela, additional, Blok, Rien, additional, Caligo, Maria Adelaide, additional, Calvello, Mariarosaria, additional, Capone, Gabriele Lorenzo, additional, Cavalli, Pietro, additional, Chan, T.L. Chris, additional, Claes, Kathleen B.M., additional, Cortesi, Laura, additional, Couch, Fergus J., additional, de la Hoya, Miguel, additional, De Toffol, Simona, additional, Diez, Orland, additional, Domchek, Susan M., additional, Eeles, Ros, additional, Efremidis, Anna, additional, Fostira, Florentia, additional, Goldgar, David, additional, Hadjisavvas, Andreas, additional, Hansen, Thomas v.O., additional, Hirasawa, Akira, additional, Houdayer, Claude, additional, Kleiblova, Petra, additional, Krieger, Sophie, additional, Lázaro, Conxi, additional, Loizidou, Maria, additional, Manoukian, Siranoush, additional, Mensenkamp, Arjen R., additional, Moghadasi, Setareh, additional, Monteiro, Alvaro N., additional, Mori, Luigi, additional, Morrow, April, additional, Naldi, Nadia, additional, Nielsen, Henriette R., additional, Olopade, Olufunmilayo I., additional, Pachter, Nicholas S., additional, Palmero, Edenir I., additional, Pedersen, Inge S., additional, Piane, Maria, additional, Puzzo, Marianna, additional, Robson, Mark, additional, Rossing, Maria, additional, Sini, Maria Christina, additional, Solano, Angela, additional, Soukupova, Jana, additional, Tedaldi, Gianluca, additional, Teixeira, Manuel, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Toland, Amanda, additional, Törngren, Therese, additional, Vaccari, Erica, additional, Varesco, Liliana, additional, Vega, Ana, additional, Wallis, Yvonne, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey, additional, Spurdle, Amanda B., additional, De Nicolo, Arcangela, additional, and Gómez-García, Encarna B., additional

Published
2018
Full Text
View/download PDF

48. Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model

Author

Hojny, Jan, primary, Zemankova, Petra, additional, Lhota, Filip, additional, Sevcik, Jan, additional, Stranecky, Viktor, additional, Hartmannova, Hana, additional, Hodanova, Katerina, additional, Mestak, Ondrej, additional, Pavlista, David, additional, Janatova, Marketa, additional, Soukupova, Jana, additional, Vocka, Michal, additional, Kleibl, Zdenek, additional, and Kleiblova, Petra, additional

Published
2017
Full Text
View/download PDF

49. Novel presentation of the c.1856A > G (p.Asp619Gly) TSHRgene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study

Author

Bezdicka, Martin, Kleiblova, Petra, Soucek, Jiri, Borecka, Marianna, El-Lababidi, Eva, Smrz, Daniel, Rataj, Michal, Sumnik, Zdenek, Malikova, Jana, and Soucek, Ondrej

Abstract

Background: Familial non-autoimmune hyperthyroidism is a rare disease caused by germline activating variants in the thyroid-stimulating hormone receptor (TSHR) gene. The c.1856A > G (p.Asp619Gly) pathogenic variant has been described in cases of toxic adenoma but never before, to our knowledge, in a case of familial non-autoimmune hyperthyroidism. Patient findings: A 3-year-old boy was admitted for acute gastroenteritis presenting with goiter and tall stature. Laboratory findings revealed peripheral hyperthyroidism and negativity for thyroid autoantibodies. Antithyroid drug treatment was effective, but relapses occurred shortly after attempts to decrease the drug dose. As the boy’s father and paternal grandmother also experienced relapsing hyperthyroidism manifesting in early childhood, genetic testing of TSHRwas indicated. The c.1856A > G (p.Asp619Gly) pathogenic variant was found in all three affected family members. Functional in vitro characterization of the variant verified that it enhances constitutional activation of the receptor, leading to increased production of cyclic adenosine monophosphate. Total thyroidectomy was indicated in the boy due to an unsatisfactory prognosis. Due to persistent positive thyroglobulin serum concentration, a diagnostic radioiodine scan was performed approximately 2 years later. Residual thyroid tissue was revealed; therefore, radioiodine ablative therapy was performed. Despite adequate thyroxine substitution over a long period of follow-up, TSH remained suppressed. Conclusions: Unlike Graves’ disease, familial non-autoimmune hyperthyroidism cases present with antithyroid drug-dependence. Not ultrasound but positive thyroglobulin serum concentration indicated residual thyroid tissue. Early detection of residual thyroid tissue and radioiodine ablation prevented the subject from experiencing relapsing hyperthyroidism and undergoing unnecessary repeated surgery. Life-long hormone substitution should be adjusted to free thyroxine rather than TSH serum concentrations.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results