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1. Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank

Author

Cybulski, Cezary, Zamani, Neda, Kluźniak, Wojciech, Milano, Larissa, Wokołorczyk, Dominika, Stempa, Klaudia, Rudnicka, Helena, Zhang, Shiyu, Zadeh, Maryam, Huzarski, Tomasz, Jakubowska, Anna, Dębniak, Tadeusz, Lener, Marcin, Szwiec, Marek, Domagała, Paweł, Samani, Amir Abbas, Narod, Steven, Gronwald, Jacek, Masson, Jean-Yves, Lubiński, Jan, and Akbari, Mohammad R.

Published
2023
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3. PALB2 mutations and prostate cancer risk and survival

Author

Wokołorczyk, Dominika, Kluźniak, Wojciech, Stempa, Klaudia, Rusak, Bogna, Huzarski, Tomasz, Gronwald, Jacek, Gliniewicz, Katarzyna, Kashyap, Aniruddh, Morawska, Sylwia, Dębniak, Tadeusz, Jakubowska, Anna, Szwiec, Marek, Domagała, Paweł, Lubiński, Jan, Narod, Steven A., Akbari, Mohammad R., and Cybulski, Cezary

Published
2021
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5. Genetic predisposition to male breast cancer in Poland

Author

Szwiec, Marek, Tomiczek-Szwiec, Joanna, Kluźniak, Wojciech, Wokołorczyk, Dominika, Osowiecka, Karolina, Sibilski, Robert, Wachowiak, Małgorzata, Gronwald, Jacek, Gronwald, Helena, Lubiński, Jan, Cybulski, Cezary, Narod, Steven A., and Huzarski, Tomasz

Published
2021
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8. The APOBEC3B c.783delG Truncating Mutation Is Not Associated with an Increased Risk of Breast Cancer in the Polish Population

Author

Gliniewicz, Katarzyna, primary, Kluźniak, Wojciech, additional, Wokołorczyk, Dominika, additional, Huzarski, Tomasz, additional, Stempa, Klaudia, additional, Rudnicka, Helena, additional, Jakubowska, Anna, additional, Szwiec, Marek, additional, Jarkiewicz-Tretyn, Joanna, additional, Naczk, Mariusz, additional, Kluz, Tomasz, additional, Dębniak, Tadeusz, additional, Gronwald, Jacek, additional, Lubiński, Jan, additional, Narod, Steven A., additional, Akbari, Mohammad R., additional, and Cybulski, Cezary, additional

Published
2023
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9. Supplementary notes from Genome-Wide Association Study of Prostate Cancer–Specific Survival

Author

Szulkin, Robert, primary, Karlsson, Robert, primary, Whitington, Thomas, primary, Aly, Markus, primary, Gronberg, Henrik, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Kote-Jarai, Zsofia, primary, Al Olama, Ali Amin, primary, Benlloch, Sara, primary, Muir, Kenneth, primary, Giles, Graham G., primary, Southey, Melissa C., primary, FitzGerald, Liesel M., primary, Henderson, Brian E., primary, Schumacher, Fredrick R., primary, Haiman, Christopher A., primary, Sipeky, Csilla, primary, Tammela, Teuvo L.J., primary, Nordestgaard, Børge G., primary, Key, Timothy J., primary, Travis, Ruth C., primary, Neal, David E., primary, Donovan, Jenny L., primary, Hamdy, Freddie C., primary, Pharoah, Paul D.P., primary, Pashayan, Nora, primary, Khaw, Kay-Tee, primary, Stanford, Janet L., primary, Thibodeau, Stephen N., primary, McDonnell, Shannon K., primary, Schaid, Daniel J., primary, Maier, Christiane, primary, Vogel, Walther, primary, Luedeke, Manuel, primary, Herkommer, Kathleen, primary, Kibel, Adam S., primary, Cybulski, Cezary, primary, Lubiński, Jan, primary, Kluźniak, Wojciech, primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Herrmann, Volker, primary, Holleczek, Bernd, primary, Park, Jong Y., primary, Sellers, Thomas A., primary, Lim, Hui-Yi, primary, Slavov, Chavdar, primary, Kaneva, Radka P., primary, Mitev, Vanio I., primary, Spurdle, Amanda, primary, Teixeira, Manuel R., primary, Paulo, Paula, primary, Maia, Sofia, primary, Pandha, Hardev, primary, Michael, Agnieszka, primary, Kierzek, Andrzej, primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Albanes, Demetrius, primary, Andriole, Gerald L., primary, Berndt, Sonja I., primary, Chanock, Stephen, primary, Gapstur, Susan M., primary, Giovannucci, Edward L., primary, Hunter, David J., primary, Kraft, Peter, primary, Le Marchand, Loic, primary, Ma, Jing, primary, Mondul, Alison M., primary, Penney, Kathryn L., primary, Stampfer, Meir J., primary, Stevens, Victoria L., primary, Weinstein, Stephanie J., primary, Trichopoulou, Antonia, primary, Bueno-de-Mesquita, Bas H., primary, Tjønneland, Anne, primary, Cox, David G., primary, Maehle, Lovise, primary, Schleutker, Johanna, primary, Lindström, Sara, primary, and Wiklund, Fredrik, primary

Published
2023
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10. Data from Genome-Wide Association Study of Prostate Cancer–Specific Survival

Author

Szulkin, Robert, primary, Karlsson, Robert, primary, Whitington, Thomas, primary, Aly, Markus, primary, Gronberg, Henrik, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Kote-Jarai, Zsofia, primary, Al Olama, Ali Amin, primary, Benlloch, Sara, primary, Muir, Kenneth, primary, Giles, Graham G., primary, Southey, Melissa C., primary, FitzGerald, Liesel M., primary, Henderson, Brian E., primary, Schumacher, Fredrick R., primary, Haiman, Christopher A., primary, Sipeky, Csilla, primary, Tammela, Teuvo L.J., primary, Nordestgaard, Børge G., primary, Key, Timothy J., primary, Travis, Ruth C., primary, Neal, David E., primary, Donovan, Jenny L., primary, Hamdy, Freddie C., primary, Pharoah, Paul D.P., primary, Pashayan, Nora, primary, Khaw, Kay-Tee, primary, Stanford, Janet L., primary, Thibodeau, Stephen N., primary, McDonnell, Shannon K., primary, Schaid, Daniel J., primary, Maier, Christiane, primary, Vogel, Walther, primary, Luedeke, Manuel, primary, Herkommer, Kathleen, primary, Kibel, Adam S., primary, Cybulski, Cezary, primary, Lubiński, Jan, primary, Kluźniak, Wojciech, primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Herrmann, Volker, primary, Holleczek, Bernd, primary, Park, Jong Y., primary, Sellers, Thomas A., primary, Lim, Hui-Yi, primary, Slavov, Chavdar, primary, Kaneva, Radka P., primary, Mitev, Vanio I., primary, Spurdle, Amanda, primary, Teixeira, Manuel R., primary, Paulo, Paula, primary, Maia, Sofia, primary, Pandha, Hardev, primary, Michael, Agnieszka, primary, Kierzek, Andrzej, primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Albanes, Demetrius, primary, Andriole, Gerald L., primary, Berndt, Sonja I., primary, Chanock, Stephen, primary, Gapstur, Susan M., primary, Giovannucci, Edward L., primary, Hunter, David J., primary, Kraft, Peter, primary, Le Marchand, Loic, primary, Ma, Jing, primary, Mondul, Alison M., primary, Penney, Kathryn L., primary, Stampfer, Meir J., primary, Stevens, Victoria L., primary, Weinstein, Stephanie J., primary, Trichopoulou, Antonia, primary, Bueno-de-Mesquita, Bas H., primary, Tjønneland, Anne, primary, Cox, David G., primary, Maehle, Lovise, primary, Schleutker, Johanna, primary, Lindström, Sara, primary, and Wiklund, Fredrik, primary

Published
2023
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12. The variant allele of the rs188140481 polymorphism confers a moderate increase in the risk of prostate cancer in Polish men

Author

Polish Hereditary Prostate Cancer Consortium, Antczak, Andrzej, Wokołorczyk, Dominika, Kluźniak, Wojciech, Kashyap, Aniruddh, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Dębniak, Tadeusz, Masojć, Bartłomiej, Górski, Bohdan, Gromowski, Tomasz, Gołąb, Adam, Sikorski, Andrzej, Słojewski, Marcin, Gliniewicz, Bartłomiej, Borkowski, Tomasz, Borkowski, Andrzej, Przybyła, Jacek, Sosnowski, Marek, Małkiewicz, Bartosz, Zdrojowy, Romuald, Sikorska-Radek, Paulina, Matych, Józef, Wilkosz, Jacek, Różański, Waldemar, Kiś, Jacek, Bar, Krzysztof, Janiszewska, Hanna, Stawicka, Małgorzata, Milecki, Piotr, Lubiński, Jan, Narod, Steven A., and Cybulski, Cezary

Published
2015

15. Risk of Second Primary Thyroid Cancer in Women with Breast Cancer

Author

Cieszyńska, Monika, primary, Kluźniak, Wojciech, additional, Wokołorczyk, Dominika, additional, Cybulski, Cezary, additional, Huzarski, Tomasz, additional, Gronwald, Jacek, additional, Falco, Michał, additional, Dębniak, Tadeusz, additional, Jakubowska, Anna, additional, Derkacz, Róża, additional, Marciniak, Wojciech, additional, Lener, Marcin, additional, Woronko, Karolina, additional, Mocarz, Dominika, additional, Baszuk, Piotr, additional, Bryśkiewicz, Marta, additional, Narod, Steven A., additional, and Lubiński, Jan, additional

Published
2022
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16. Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer

Author

Miao, Beiping, primary, Skopelitou, Diamanto, additional, Srivastava, Aayushi, additional, Giangiobbe, Sara, additional, Dymerska, Dagmara, additional, Paramasivam, Nagarajan, additional, Kumar, Abhishek, additional, Kuświk, Magdalena, additional, Kluźniak, Wojciech, additional, Paszkowska-Szczur, Katarzyna, additional, Schlesner, Matthias, additional, Lubinski, Jan, additional, Hemminki, Kari, additional, Försti, Asta, additional, and Bandapalli, Obul Reddy, additional

Published
2022
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17. Prediction of Individual Genetic Risk to Prostate Cancer Using a Polygenic Score

Author

Szulkin, Robert, Whitington, Thomas, Eklund, Martin, Aly, Markus, Eeles, Rosalind A., Easton, Douglas, Kote-Jarai, Sofia Z, Amin Al Olama, Ali, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Southey, Melissa C., Fitzgerald, Liesel M., Henderson, Brian E., Schumacher, Fredrick, Haiman, Christopher A., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo LJ, Nordestgaard, Børge G., Key, Tim J., Travis, Ruth C., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L., Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., Maier, Christiane, Vogel, Walther, Luedeke, Manuel, Herkommer, Kathleen, Kibel, Adam S., Cybulski, Cezary, Lubiński, Jan, Kluźniak, Wojciech, Cannon-Albright, Lisa, Brenner, Hermann, Butterbach, Katja, Stegmaier, Christa, Park, Jong Y., Sellers, Thomas, Lim, Hui-Yi, Slavov, Chavdar, Kaneva, Radka, Mitev, Vanio, Batra, Jyotsna, Clements, Judith A., Spurdle, Amanda, Teixeira, Manuel R., Paulo, Paula, Maia, Sofia, Pandha, Hardev, Michael, Agnieszka, Kierzek, Andrzej, Gronberg, Henrik, and Wiklund, Fredrik

Published
2015
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18. CHEK2 mutations and the risk of papillary thyroid cancer

Author

Siołek, Monika, Cybulski, Cezary, Gąsior-Perczak, Danuta, Kowalik, Artur, Kozak-Klonowska, Beata, Kowalska, Aldona, Chłopek, Małgorzata, Kluźniak, Wojciech, Wokołorczyk, Dominika, Pałyga, Iwona, Walczyk, Agnieszka, Lizis-Kolus, Katarzyna, Sun, Ping, Lubiński, Jan, Narod, Steven A., and Góźdż, Stanisław

Published
2015
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19. The presence of prostate cancer at biopsy is predicted by a number of genetic variants

Author

Kashyap, Aniruddh, Kluźniak, Wojciech, Wokołorczyk, Dominika, Gołąb, Adam, Sikorski, Andrzej, Słojewski, Marcin, Gliniewicz, Bartłomiej, Świtała, Jerzy, Borkowski, Tomasz, Borkowski, Andrzej, Antczak, Andrzej, Wojnar, Łukasz, Przybyła, Jacek, Sosnowski, Marek, Małkiewicz, Bartosz, Zdrojowy, Romuald, Sikorska-Radek, Paulina, Matych, Józef, Wilkosz, Jacek, Różański, Waldemar, Kiś, Jacek, Bar, Krzysztof, Bryniarski, Piotr, Paradysz, Andrzej, Jersak, Konrad, Niemirowicz, Jerzy, Słupski, Piotr, Jarzemski, Piotr, Skrzypczyk, Michał, Dobruch, Jakub, Domagała, Paweł, Piotrowski, Krzysztof, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Dębniak, Tadeusz, Górski, Bohdan, Masojć, Bartłomiej, van de Wetering, Thierry, Menkiszak, Janusz, Akbari, Mohammad R., Lubiński, Jan, Narod, Steven A., and Cybulski, Cezary

Published
2014
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23. The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland

Author

Kluźniak, Wojciech, Wokołorczyk, Dominika, Kashyap, Aniruddh, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Dębniak, Tadeusz, Gołąb, Adam, Gliniewicz, Bartłomiej, Sikorski, Andrzej, Świtała, Jerzy, Borkowski, Tomasz, Borkowski, Andrzej, Antczak, Andrzej, Wojnar, Łukasz, Przybyła, Jacek, Sosnowski, Marek, Małkiewicz, Bartosz, Zdrojowy, Romuald, Sikorska-Radek, Paulina, Matych, Józef, Wilkosz, Jacek, Różański, Waldemar, Kiś, Jacek, Bar, Krzysztof, Bryniarski, Piotr, Paradysz, Andrzej, Jersak, Konrad, Niemirowicz, Jerzy, Słupski, Piotr, Jarzemski, Piotr, Skrzypczyk, Michał, Dobruch, Jakub, Domagała, Paweł, Akbari, Mohammad R., Lubiński, Jan, Narod, Steven A., and Cybulski, Cezary

Published
2013
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25. Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

Author

Łukomska, Alicja, primary, Menkiszak, Janusz, additional, Gronwald, Jacek, additional, Tomiczek-Szwiec, Joanna, additional, Szwiec, Marek, additional, Jasiówka, Marek, additional, Blecharz, Paweł, additional, Kluz, Tomasz, additional, Stawicka-Niełacna, Małgorzata, additional, Mądry, Radosław, additional, Białkowska, Katarzyna, additional, Prajzendanc, Karolina, additional, Kluźniak, Wojciech, additional, Cybulski, Cezary, additional, Dębniak, Tadeusz, additional, Huzarski, Tomasz, additional, Tołoczko-Grabarek, Aleksandra, additional, Byrski, Tomasz, additional, Baszuk, Piotr, additional, Narod, Steven A., additional, Lubiński, Jan, additional, and Jakubowska, Anna, additional

Published
2021
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26. Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population

Author

Rogoża-Janiszewska, Emilia, primary, Malińska, Karolina, additional, Górski, Bohdan, additional, Scott, Rodney J., additional, Cybulski, Cezary, additional, Kluźniak, Wojciech, additional, Lener, Marcin, additional, Jakubowska, Anna, additional, Gronwald, Jacek, additional, Huzarski, Tomasz, additional, Lubiński, Jan, additional, and Dębniak, Tadeusz, additional

Published
2020
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27. Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland

Author

Rogoża-Janiszewska, Emilia, primary, Malińska, Karolina, additional, Cybulski, Cezary, additional, Jakubowska, Anna, additional, Gronwald, Jacek, additional, Huzarski, Tomasz, additional, Lener, Marcin, additional, Górski, Bohdan, additional, Kluźniak, Wojciech, additional, Rudnicka, Helena, additional, Akbari, Mohammad, additional, Kashyap, Aniruddh, additional, Narod, Steven, additional, Lubiński, Jan, additional, Dębniak, Tadeusz, additional, and Polish Hereditary Breast Cancer Consortium, on behalf of the, additional

Published
2020
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28. Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer

Author

Kluźniak, Wojciech, primary, Wokołorczyk, Dominika, additional, Rusak, Bogna, additional, Huzarski, Tomasz, additional, Kashyap, Aniruddh, additional, Stempa, Klaudia, additional, Rudnicka, Helena, additional, Jakubowska, Anna, additional, Szwiec, Marek, additional, Morawska, Sylwia, additional, Gliniewicz, Katarzyna, additional, Mordak, Karina, additional, Stawicka, Małgorzata, additional, Jarkiewicz-Tretyn, Joanna, additional, Cechowska, Magdalena, additional, Domagała, Paweł, additional, Dębniak, Tadeusz, additional, Lener, Marcin, additional, Gronwald, Jacek, additional, Lubiński, Jan, additional, Narod, Steven A., additional, Akbari, Mohammad R., additional, and Cybulski, Cezary, additional

Published
2019
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29. Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.

Author

Wokołorczyk, Dominika, Kluźniak, Wojciech, Huzarski, Tomasz, Gronwald, Jacek, Szymiczek, Agata, Rusak, Bogna, Stempa, Klaudia, Gliniewicz, Katarzyna, Kashyap, Aniruddh, Morawska, Sylwia, Dębniak, Tadeusz, Jakubowska, Anna, Szwiec, Marek, Domagała, Paweł, Lubiński, Jan, Narod, Steven A., Akbari, Mohammad R., and Cybulski, Cezary

Subjects
BRCA genes, GENETIC mutation, GENETIC testing, PROSTATE cancer, GRAND strategy (Political science)
Abstract

In designing national strategies for genetic testing, it is important to define the full spectrum of pathogenic mutations in prostate cancer (PCa) susceptibility genes. To investigate the frequency of mutations in PCa susceptibility genes in Polish familial PCa cases and to estimate gene‐related PCa risks and probability of aggressive disease, we analyzed the coding regions of 14 genes by exome sequencing in 390 men with familial prostate cancer and 308 cancer‐free controls. We compared the mutation frequencies between PCa cases and controls. We also compared clinical characteristics of prostate cancers between mutation carriers and noncarriers. Of the 390 PCa cases, 76 men (19.5%) carried a mutation in BRCA1, BRCA2, NBN, ATM, CHEK2, HOXB13, MSH2 or MSH6 genes. No mutations were found in BRIP1, PTEN, TP53, MLH1, PMS2 and SPOP. Significant associations with familial PCa risk were observed for CHEK2, NBN, ATM, and HOXB13. High‐grade (Gleason 8‐10) tumors were seen in 56% of BRCA2, NBN or ATM carriers, compared to 21% of patients who tested negative for mutations in these genes (OR = 4.7, 95% CI 2.0‐10.7, P =.0003). In summary, approximately 20% of familial prostate cancer cases in Poland can be attributed to mutations in eight susceptibility genes. Carriers of mutations in BRCA2, NBN and ATM develop aggressive disease and may benefit from intensified screening and/or chemotherapy. What's new? Genetic susceptibility plays an important role in prostate cancer (PCa). In designing genetic‐testing strategies for PCa screening, it is important to define the full spectrum of pathogenic mutations that increase PCa risk. In this study, the authors found that approximately 20% of familial prostate cancer cases in Poland can be attributed to mutations in eight susceptibility genes. In addition, carriers of mutations in BRCA2, NBN and ATM are more likely to develop aggressive disease. These patients may benefit from intensified screening and/or chemotherapy. [ABSTRACT FROM AUTHOR]

Published
2020
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30. BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population

Author

Dębniak, Tadeusz, primary, Scott, Rodney J., additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, Lener, Marcin R., additional, and Lubiński, Jan, additional

Published
2018
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31. TaqMan protocol - BRCA1/2 mutations are not a common cause of malignant melanoma in the Polishpopulation v1

Author

Dębniak, Tadeusz, primary, J, Rodney, additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, R., Marcin, additional, and Lubiński, Jan, additional

Published
2018
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32. Sanger sequencing protocol - BRCA1/2 mutations are not a common cause of malignant melanoma in the Polishpopulation v1

Author

Dębniak, Tadeusz, primary, J, Rodney, additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, and R., Marcin, additional

Published
2018
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33. Sanger sequencing protocol - BRCA1/2 mutations are not a common cause of malignant melanoma in the Polishpopulation v1

Author

J Scott, Rodney, additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, R. Lener, Marcin, additional, and Lubiński, Jan, additional

Published
2018
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36. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Author

Al Olama, Ali Amin, Dadaev, Tokhir, Hazelett, Dennis J., Li, Qiuyan, Leongamornlert, Daniel A., Saunders, Edward J., Stephens, Sarah, Cieza-Borrella, Clara, Whitmore, Ian, Benlloch Garcia, Sara, Giles, Graham G., Southey, Melissa C., FitzGerald, Liesel M., Gronberg, Henrik, Wiklund, Fredrik, Aly, Markus, Henderson, Brian E., Schumacher, Fredrick, Haiman, Christopher A., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo L. J., Nordestgaard, Børge G., Key, Tim J., Travis, Ruth C., Neal, David E, Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L., Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., Maier, Christiane, Vogel, Walther, Luedeke, Manuel, Herkommer, Kathleen, Kibel, Adam S., Cybulski, Cezary, Wokozorczyk, Dominika, Kluźniak, Wojciech, Cannon-Albright, Lisa, Brenner, Hermann, Butterbach, Katja, Arndt, Volker, Park, Jong Y., Sellers, Thomas A., Lim, Hui-Yi, Slavov, Chavdar, Kaneva, Radka, Mitev, Vanio, Batra, Jyotsna, Clements, Judith A., Spurdle, Amanda, Teixeira, Manuel R., Paulo, Paula, Maia, Sofia, Pandha, Hardev, Michael, Agnieszka, Kierzek, Andrzej M., Govindasami, Koveela, Guy, Michelle, Muir, Kenneth, Viñuela, Ana, Brown, Andrew A., Freedman, Mathew, Conti, David V., Easton, Douglas F., Coetzee, Gerhard A., Eeles, Rosalind A., and Kote-Jarai, Zsofia

Subjects
RC0254
Abstract

Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large scale genotyping and imputation in 25,723 PrCa cases and 26,274 controls of European ancestry.We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, whilst the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed 2 association signals in Europeans that had been previously reported only in East-Asian GWAS.Based on statistical evidence and LD structure we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain approximately 38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same region.

Published
2015

37. The spectrum of mutations predisposing to familial breast cancer in Poland.

Author

Cybulski, Cezary, Kluźniak, Wojciech, Huzarski, Tomasz, Wokołorczyk, Dominika, Kashyap, Aniruddh, Rusak, Bogna, Stempa, Klaudia, Gronwald, Jacek, Szymiczek, Agata, Bagherzadeh, Maryam, Jakubowska, Anna, Dębniak, Tadeusz, Lener, Marcin, Rudnicka, Helena, Szwiec, Marek, Jarkiewicz‐Tretyn, Joanna, Stawicka, Małgorzata, Domagała, Paweł, Narod, Steven A., and Lubiński, Jan

Subjects
HEREDITARY cancer syndromes, BREAST cancer, BRCA genes, CANCER susceptibility, CANCER genes, GENETIC testing
Abstract

To optimize genetic testing, it is necessary to establish the spectrum of breast cancer‐predisposing mutations in particular ethnic groups. We studied 1,018 women with a strong family history for breast cancer (families with hereditary breast cancer; HBC) from genetically homogenous population of Poland, which is populated by ethnic Slavs, for mutations in 14 cancer susceptibility genes. Additionally, we compared the frequency of candidate pathogenic variants in breast cancer cases and controls. Germline mutations were detected in 512 of 1,018 probands with breast cancer (50.3%), including BRCA1/2 mutations detected in 420 families and non‐BRCA mutations seen in 92 families. Thirteen BRCA1/2 founder mutations represented 84% of all BRCA1/2‐positive cases. Seven founder mutations of CHEK2, PALB2, NBN and RECQL represented 73% of all non‐BRCA‐positive cases. Odds ratios for hereditary breast cancer were 87.6 for BRCA1, 15.4 for PALB2, 7.2 for CHEK2, 2.8 for NBN and 15.8 for RECQL. Odds ratios for XRCC2, BLM and BARD1 were below 1.3. In summary, we found that 20 founder mutations in six genes (BRCA1/2, CHEK2, PALB2, NBN and RECQL) are responsible for 82% of Polish hereditary breast cancer families. A simple test for these 20 mutations will facilitate genetic testing for breast cancer susceptibility in Poland. It may also facilitate genetic testing for breast cancer susceptibility in other Slavic populations and women of Slavic descent worldwide. What's new? Poland is a genetically homogeneous population similar to Iceland, currently designing national policies for genetic testing. To define the range of pathogenic mutations, the authors conducted a large analysis of breast cancer susceptibility genes, defining pathogenic mutations in 50.3% families with hereditary breast cancer. They identified 20 distinct founder mutations in six genes that were responsible for more than 80% of all detected mutations; these 20 mutations could be combined in a single genetic test of breast cancer susceptibility in Polish women. [ABSTRACT FROM AUTHOR]

Published
2019
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38. Inherited variants in XRCC2 and the risk of breast cancer.

Author

Kluźniak, Wojciech, Wokołorczyk, Dominika, Rusak, Bogna, Huzarski, Tomasz, Gronwald, Jacek, Stempa, Klaudia, Rudnicka, Helena, Kashyap, Aniruddh, Dębniak, Tadeusz, Jakubowska, Anna, Lener, Marcin, Szwiec, Marek, Tomiczek-Szwiec, Joanna, Jarkiewicz-Tretyn, Joanna, Cechowska, Magdalena, Domagała, Paweł, Szymiczek, Agata, Bagherzadeh, Maryam, Lubiński, Jan, and Narod, Steven A.

Abstract

Background: XRCC2 participates in homologous recombination and in DNA repair. XRCC2 has been reported to be a breast cancer susceptibility gene and is now included in several breast cancer susceptibility gene panels. Methods: We sequenced XRCC2 in 617 Polish women with familial breast cancer and found a founder mutation. We then genotyped 12,617 women with breast cancer and 4599 controls for the XRCC2 founder mutation. Results: We identified a recurrent truncating mutation of XRCC2 (c.96delT, p.Phe32fs) in 3 of 617 patients with familial breast cancer who were sequenced. The c.96delT mutation was then detected in 29 of 12,617 unselected breast cancer cases (0.23%) compared to 11 of 4599 cancer-free women (0.24%) (OR = 0.96; 95% CI 0.48–1.93). The mutation frequency in 1988 women with familial breast cancer was 0.2% (OR = 0.84, 95% CI 0.27–2.65). Breast cancers in XRCC2 mutation carriers and non-carriers were similar with respect to age of diagnosis and clinical characteristics. Loss of the wild-type XRCC2 allele was observed only in one of the eight breast cancers from patients who carried the XRCC2 mutation. No cancer type was more common in first- or second-degree relatives of XRCC2 mutation carriers than in relatives of the non-carriers. Conclusion: XRCC2 c.96delT is a protein-truncating founder variant in Poland. There is no evidence that this mutation predisposes to breast cancer (and other cancers). It is premature to consider XRCC2 as a breast cancer-predisposing gene. [ABSTRACT FROM AUTHOR]

Published
2019
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39. Allelic modification of breast cancer risk in women with an NBN mutation.

Author

Rusak, Bogna, Kluźniak, Wojciech, Wokołorczyk, Dominika, Stempa, Klaudia, Kashyap, Aniruddh, Rudnicka, Helena, Gronwald, Jacek, Huzarski, Tomasz, Dębniak, Tadeusz, Jakubowska, Anna, Szwiec, Marek, Akbari, Mohammad R., Narod, Steven A., Lubiński, Jan, Cybulski, Cezary, the Polish Hereditary Breast Cancer Consortium, Mituś, J., Morawiec, Z., Niepsuj, S., and Sibilski, R.

Abstract

Background: NBN 657del5 founder mutation predisposes to breast and prostate cancer. Recently, it has been reported that the pathogenicity of this mutation with regard to prostate cancer risk is modified by a missense variant of the same gene (E185Q). Methods: To evaluate the interaction of the 657del5 and E185Q founder alleles of NBN on breast cancer risk in Poland, 4964 women with breast cancer and 6152 controls were genotyped for these two recurrent variants of NBN (657del5 truncating variant and E185Q missense variant). Results: The NBN 657del5 mutation was detected in 57 of 4964 unselected cases and in 35 of 6152 controls (OR = 2.0, p = 0.001). The E185Q GG genotype was detected in 2167 of 4964 unselected cases and in 2617 of 6152 controls (OR = 1.04, p = 0.3). In carriers of the 657del5 deletion, the elevated cancer risk was restricted to women with the GG genotype of the E185Q variant (OR = 3.6, 95% CI 1.9–6.6; p < 0.0001). Among women with other E185Q genotypes, the OR associated with 657del5 was 1.0 (95% CI 0.5–1.8; p = 0.9). The interaction between the two alleles was statistically significant (homogeneity p = 0.003). Conclusion: In Poland, the pathogenicity of the NBN 657del5 mutation is restricted to women with a homozygous GG genotype of missense variant of the same gene (E185Q). This is the first clear example whereby a moderate penetrance breast cancer gene is impacted by a genetic modifier. [ABSTRACT FROM AUTHOR]

Published
2019
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40. Inherited NBN Mutations and Prostate Cancer Risk and Survival.

Author

Rusak, Bogna, Kluźniak, Wojciech, Wokołorczykv, Dominika, Stempa, Klaudia, Kashyap, Aniruddh, Gronwald, Jacek, Huzarski, Tomasz, Dębniak, Tadeusz, Jakubowska, Anna, Masojć, Bartłomiej, Akbari, Mohammad R., Narodv, Steven A., Lubiński, Jan, and Cybulski, Cezary

Subjects
*PROSTATE cancer prognosis, *PROSTATE cancer, *ODDS ratio
Abstract

Purpose The purpose of this study was to establish the contribution of four founder alleles of NBN to prostate cancer risk and cancer survival. Materials and Methods Five thousand one hundred eighty-nine men with prostate cancer and 6,152 controls were genotyped for four recurrent variants of NBN (657del5, R215W, I171V, and E185Q). Results The NBN 657del5 mutation was detected in 74 of 5,189 unselected cases and in 35 of 6,152 controls (odds ratio [OR], 2.5; p < 0.001). In carriers of 657del5 deletion, the cancer risk was restricted to men with the GG genotype of the E185Q variant of the same gene. Among men with the GG genotype, the OR associated with 657del5 was 4.4 (95% confidence interval [CI], 2.4 to 8.0). Among men with other E185Q genotypes, the OR associated with 657del5 was 1.4 (95% CI, 0.8 to 2.4) and the interaction was significant (homogeneity p=0.006). After a median follow-up of 109 months, mortality was worse for 657del5 mutation carriers than for non-carriers (hazard ratio [HR], 1.6; p=0.001). The adverse effect of 657del5 on survival was only seen on the background of the GG genotype of E185Q (HR, 1.9; p=0.0004). Conclusion The NBN 657del5 mutation predisposes to poor prognosis prostate cancer. The pathogenicity of this mutation, with regards to both prostate cancer risk and survival, is modified by a missense variant of the same gene (E185Q). [ABSTRACT FROM AUTHOR]

Published
2019
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41. Erratum: Corrigendum: Germline RECQL mutations are associated with breast cancer susceptibility

Author

Cybulski, Cezary, primary, Carrot-Zhang, Jian, additional, Kluźniak, Wojciech, additional, Rivera, Barbara, additional, Kashyap, Aniruddh, additional, Wokołorczyk, Dominika, additional, Giroux, Sylvie, additional, Nadaf, Javad, additional, Hamel, Nancy, additional, Zhang, Shiyu, additional, Huzarski, Tomasz, additional, Gronwald, Jacek, additional, Byrski, Tomasz, additional, Szwiec, Marek, additional, Jakubowska, Anna, additional, Rudnicka, Helena, additional, Lener, Marcin, additional, Masojć, Bartłomiej, additional, Tonin, Patrica N, additional, Rousseau, Francois, additional, Górski, Bohdan, additional, Dębniak, Tadeusz, additional, Majewski, Jacek, additional, Lubiński, Jan, additional, Foulkes, William D, additional, Narod, Steven A, additional, and Akbari, Mohammad R, additional

Published
2016
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42. Genome-wide association study of prostate cancer-specific survival

Author

Szulkin, Robert, Karlsson, Robert, Whitington, Thomas, Aly, Markus, Gronberg, Henrik, Eeles, Rosalind A, Easton, Douglas F, Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G, Southey, Melissa C, FitzGerald, Liesel M, Henderson, Brian E, Schumacher, Fredrick R, Haiman, Christopher A, Sipeky, Csilla, Tammela, Teuvo L J, Nordestgaard, Børge G, Key, Timothy J, Travis, Ruth C, Neal, David E, Donovan, Jenny L, Hamdy, Freddie C, Pharoah, Paul D P, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L, Thibodeau, Stephen N, McDonnell, Shannon K, Schaid, Daniel J, Maier, Christiane, Vogel, Walther, Luedeke, Manuel, Herkommer, Kathleen, Kibel, Adam S, Cybulski, Cezary, Lubiński, Jan, Kluźniak, Wojciech, Cannon-Albright, Lisa, Brenner, Hermann, Herrmann, Volker, Holleczek, Bernd, Park, Jong Y, Sellers, Thomas A, Lim, Hui-Yi, Slavov, Chavdar, Kaneva, Radka P, Mitev, Vanio I, Szulkin, Robert, Karlsson, Robert, Whitington, Thomas, Aly, Markus, Gronberg, Henrik, Eeles, Rosalind A, Easton, Douglas F, Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G, Southey, Melissa C, FitzGerald, Liesel M, Henderson, Brian E, Schumacher, Fredrick R, Haiman, Christopher A, Sipeky, Csilla, Tammela, Teuvo L J, Nordestgaard, Børge G, Key, Timothy J, Travis, Ruth C, Neal, David E, Donovan, Jenny L, Hamdy, Freddie C, Pharoah, Paul D P, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L, Thibodeau, Stephen N, McDonnell, Shannon K, Schaid, Daniel J, Maier, Christiane, Vogel, Walther, Luedeke, Manuel, Herkommer, Kathleen, Kibel, Adam S, Cybulski, Cezary, Lubiński, Jan, Kluźniak, Wojciech, Cannon-Albright, Lisa, Brenner, Hermann, Herrmann, Volker, Holleczek, Bernd, Park, Jong Y, Sellers, Thomas A, Lim, Hui-Yi, Slavov, Chavdar, Kaneva, Radka P, and Mitev, Vanio I

Abstract

BACKGROUND: Unnecessary intervention and overtreatment of indolent disease are common challenges in clinical management of prostate cancer. Improved tools to distinguish lethal from indolent disease are critical.METHODS: We performed a genome-wide survival analysis of cause-specific death in 24,023 prostate cancer patients (3,513 disease-specific deaths) from the PRACTICAL and BPC3 consortia. Top findings were assessed for replication in a Norwegian cohort (CONOR).RESULTS: We observed no significant association between genetic variants and prostate cancer survival.CONCLUSIONS: Common genetic variants with large impact on prostate cancer survival were not observed in this study.IMPACT: Future studies should be designed for identification of rare variants with large effect sizes or common variants with small effect sizes.

Published
2015

43. Germline RECQL mutations are associated with breast cancer susceptibility

Author

Cybulski, Cezary, primary, Carrot-Zhang, Jian, additional, Kluźniak, Wojciech, additional, Rivera, Barbara, additional, Kashyap, Aniruddh, additional, Wokołorczyk, Dominika, additional, Giroux, Sylvie, additional, Nadaf, Javad, additional, Hamel, Nancy, additional, Zhang, Shiyu, additional, Huzarski, Tomasz, additional, Gronwald, Jacek, additional, Byrski, Tomasz, additional, Szwiec, Marek, additional, Jakubowska, Anna, additional, Rudnicka, Helena, additional, Lener, Marcin, additional, Masojć, Bartłomiej, additional, Tonin, Patrica N, additional, Rousseau, Francois, additional, Górski, Bohdan, additional, Dębniak, Tadeusz, additional, Majewski, Jacek, additional, Lubiński, Jan, additional, Foulkes, William D, additional, Narod, Steven A, additional, and Akbari, Mohammad R, additional

Published
2015
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44. The variant allele of the rs188140481 polymorphism confers a moderate increase in the risk of prostate cancer in Polish men

Author

Antczak, Andrzej, primary, Wokołorczyk, Dominika, additional, Kluźniak, Wojciech, additional, Kashyap, Aniruddh, additional, Jakubowska, Anna, additional, Gronwald, Jacek, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Dębniak, Tadeusz, additional, Masojć, Bartłomiej, additional, Górski, Bohdan, additional, Gromowski, Tomasz, additional, Gołąb, Adam, additional, Sikorski, Andrzej, additional, Słojewski, Marcin, additional, Gliniewicz, Bartłomiej, additional, Borkowski, Tomasz, additional, Borkowski, Andrzej, additional, Przybyła, Jacek, additional, Sosnowski, Marek, additional, Małkiewicz, Bartosz, additional, Zdrojowy, Romuald, additional, Sikorska-Radek, Paulina, additional, Matych, Józef, additional, Wilkosz, Jacek, additional, Różański, Waldemar, additional, Kiś, Jacek, additional, Bar, Krzysztof, additional, Janiszewska, Hanna, additional, Stawicka, Małgorzata, additional, Milecki, Piotr, additional, Lubiński, Jan, additional, Narod, Steven A., additional, and Cybulski, Cezary, additional

Published
2015
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46. CHEK2mutations and the risk of papillary thyroid cancer

Author

Siołek, Monika, primary, Cybulski, Cezary, additional, Gąsior-Perczak, Danuta, additional, Kowalik, Artur, additional, Kozak-Klonowska, Beata, additional, Kowalska, Aldona, additional, Chłopek, Małgorzata, additional, Kluźniak, Wojciech, additional, Wokołorczyk, Dominika, additional, Pałyga, Iwona, additional, Walczyk, Agnieszka, additional, Lizis-Kolus, Katarzyna, additional, Sun, Ping, additional, Lubiński, Jan, additional, Narod, Steven A., additional, and Góźdż, Stanisław, additional

Published
2015
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47. A common nonsense mutation of the BLM gene and prostate cancer risk and survival

Author

Antczak, Andrzej, primary, Kluźniak, Wojciech, additional, Wokołorczyk, Dominika, additional, Kashyap, Aniruddh, additional, Jakubowska, Anna, additional, Gronwald, Jacek, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Dębniak, Tadeusz, additional, Masojć, Bartłomiej, additional, Górski, Bohdan, additional, Gromowski, Tomasz, additional, Nagorna, Agnieszka, additional, Gołąb, Adam, additional, Sikorski, Andrzej, additional, Słojewski, Marcin, additional, Gliniewicz, Bartłomiej, additional, Borkowski, Tomasz, additional, Borkowski, Andrzej, additional, Przybyła, Jacek, additional, Sosnowski, Marek, additional, Małkiewicz, Bartosz, additional, Zdrojowy, Romuald, additional, Sikorska-Radek, Paulina, additional, Matych, Józef, additional, Wilkosz, Jacek, additional, Różański, Waldemar, additional, Kiś, Jacek, additional, Bar, Krzysztof, additional, Domagała, Paweł, additional, Stawicka, Małgorzata, additional, Milecki, Piotr, additional, Akbari, Mohammad R., additional, Narod, Steven A., additional, Lubiński, Jan, additional, Cybulski, Cezary, additional, Bryniarski, Piotr, additional, Paradysz, Andrzej, additional, Jersak, Konrad, additional, Niemirowicz, Jerzy, additional, Słupski, Piotr, additional, Jarzemski, Piotr, additional, Skrzypczyk, Michał, additional, Dobruch, Jakub, additional, Domagała, Wenancjusz, additional, Chosia, Maria, additional, van de Wetering, Thierry, additional, Serrano-Fernández, Pablo, additional, Puszyński, Michał, additional, Soczawa, Michał, additional, Świtała, Jerzy, additional, Archimowicz, Sławomir, additional, Kordowski, Mirosław, additional, Życzkowski, Marcin, additional, Borówka, Andrzej, additional, Bagińska, Joanna, additional, Krajka, Kazimierz, additional, Szwiec, Marek, additional, Haus, Olga, additional, Janiszewska, Hanna, additional, Stembalska, Agnieszka, additional, and Sąsiadek, Maria Małgorzata, additional

Published
2013
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48. CHEK 2 mutations and the risk of papillary thyroid cancer.

Author

Siołek, Monika, Cybulski, Cezary, Gąsior‐Perczak, Danuta, Kowalik, Artur, Kozak‐Klonowska, Beata, Kowalska, Aldona, Chłopek, Małgorzata, Kluźniak, Wojciech, Wokołorczyk, Dominika, Pałyga, Iwona, Walczyk, Agnieszka, Lizis‐Kolus, Katarzyna, Sun, Ping, Lubiński, Jan, Narod, Steven A., and Góźdż, Stanisław

Abstract

Mutations in the cell cycle checkpoint kinase 2 ( CHEK2) tumor suppressor gene are associated with multi-organ cancer susceptibility including cancers of the breast and prostate. A genetic association between thyroid and breast cancer has been suggested, however little is known about the determinants of this association. To characterize the association of CHEK2 mutations with thyroid cancer, we genotyped 468 unselected patients with papillary thyroid cancer and 468 (matched) cancer-free controls for four founder mutations of CHEK2 ( 1100delC, IVS2 + 1G>A, del5395 and I157T). We compared the family histories reported by patients with a CHEK2 mutation to those of non-carriers. A CHEK2 mutation was seen in 73 of 468 (15.6%) unselected patients with papillary thyroid cancer, compared to 28 of 460 (6.0%) age- and sex-matched controls (OR 3.3; p < 0.0001). A truncating mutation ( IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). CHEK2 mutation carriers reported a family history of breast cancer 2.2 times more commonly than non-carriers (16.4% vs.8.1%; p = 0.05). A CHEK2 mutation was found in seven of 11 women (63%) with multiple primary cancers of the breast and thyroid (OR = 10; p = 0.0004). These results suggest that CHEK2 mutations predispose to thyroid cancer, familial aggregations of breast and thyroid cancer and to double primary cancers of the breast and thyroid. [ABSTRACT FROM AUTHOR]

Published
2015
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49. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Author

Dadaev, Tokhir, Saunders, Edward J., Newcombe, Paul J., Anokian, Ezequiel, Leongamornlert, Daniel A., Brook, Mark N., Cieza-Borrella, Clara, Mijuskovic, Martina, Wakerell, Sarah, Olama, Ali Amin Al, Schumacher, Fredrick R., Berndt, Sonja I., Benlloch, Sara, Ahmed, Mahbubl, Goh, Chee, Sheng, Xin, Zhang, Zhuo, Muir, Kenneth, Govindasami, Koveela, Lophatananon, Artitaya, Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Tangen, Catherine M., Goodman, Phyllis, Thompson, Ian M., Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Clements, Judith, Horvath, Lisa, Tilley, Wayne, Risbridger, Gail, Gronberg, Henrik, Aly, Markus, Nordström, Tobias, Pharoah, Paul, Pashayan, Nora, Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Albanes, Demetrius, Weinstein, Stephanie, Wolk, Alicja, Hakansson, Niclas, West, Catharine, Dunning, Alison M., Burnet, Neil, Mucci, Lorelei, Giovannucci, Edward, Andriole, Gerald, Cussenot, Olivier, Cancel-Tassin, Géraldine, Koutros, Stella, Freeman, Laura E. Beane, Sorensen, Karina Dalsgaard, Orntoft, Torben Falck, Borre, Michael, Maehle, Lovise, Grindedal, Eli Marie, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Travis, Ruth C., Key, Tim J., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Ingles, Sue Ann, Stern, Mariana C., Rosenstein, Barry, Kerns, Sarah, Ostrer, Harry, Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Guo, Xin, Wang, Guomin, Sun, Zan, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., FitzGerald, Liesel M., Kibel, Adam S., Drake, Bettina F., Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Szulkin, Robert, Eklund, Martin, Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Penney, Kathryn L., Stampfer, Meir, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Stanford, Janet L., Cybulski, Cezary, Wokolorczyk, Dominika, Lubinski, Jan, Ostrander, Elaine A., Geybels, Milan S., Nordestgaard, Børge G., Nielsen, Sune F., Weisher, Maren, Bisbjerg, Rasmus, Røder, Martin Andreas, Iversen, Peter, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Maier, Christiane, Luedeke, Manuel, Schnoeller, Thomas, Kim, Jeri, Logothetis, Christopher J., John, Esther M., Teixeira, Manuel R., Paulo, Paula, Cardoso, Marta, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Lin, Daniel W., Newcomb, Lisa F., Lessel, Davor, Gamulin, Marija, Kulis, Tomislav, Kaneva, Radka, Usmani, Nawaid, Slavov, Chavdar, Mitev, Vanio, Parliament, Matthew, Singhal, Sandeep, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, Xu, Jianfeng, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Michael, Agnieszka, Kierzek, Andrzej, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., Lindstrom, Sara, Turman, Constance, Ma, Jing, Hunter, David J., Riboli, Elio, Siddiq, Afshan, Canzian, Federico, Kolonel, Laurence N., Le Marchand, Loic, Hoover, Robert N., Machiela, Mitchell J., Kraft, Peter, Cook, Margaret, Thwaites, Alison, Guy, Michelle, Whitmore, Ian, Morgan, Angela, Fisher, Cyril, Hazel, Steve, Livni, Naomi, Spurdle, Amanda, Srinivasan, Srilakshmi, Kedda, Mary-Anne, Aitken, Joanne, Gardiner, Robert, Hayes, Vanessa, Butler, Lisa, Taylor, Renea, Yeadon, Trina, Eckert, Allison, Saunders, Pamela, Haynes, Anne-Maree, Papargiris, Melissa, Kujala, Paula, Talala, Kirsi, Murtola, Teemu, Taari, Kimmo, Dearnaley, David, Barnett, Gill, Bentzen, Søren, Elliott, Rebecca, Ranu, Hardeep, Hicks, Belynda, Vogt, Aurelie, Hutchinson, Amy, Cox, Angela, Davis, Michael, Brown, Paul, George, Anne, Marsden, Gemma, Lane, Athene, Lewis, Sarah J., Berry, Clare, Kulkarni, Girish S., Toi, Ants, Evans, Andrew, Zlotta, Alexandre R., van der Kwast, Theodorus H., Imai, Takashi, Saito, Shiro, Marzec, Jacek, Cao, Guangwen, Lin, Ji, Ling, Jin, Li, Meiling, Zhao, Shan-Chao, Ren, Guoping, Yu, Yongwei, Wu, Yudong, Wu, Ji, Zhou, Bo, Zhang, Yangling, Li, Jie, He, Weiyang, Guo, Jianming, Pedersen, John, Hopper, John L., Milne, Roger, Klim, Aleksandra, Carballo, Ana, Lobato-Busto, Ramón, Peleteiro, Paula, Calvo, Patricia, Aguado, Miguel, Ruiz-Dominguez, José Manuel, Cecchini, Lluís, Mengual, Lourdes, Alcaraz, Antonio, Bustamante, Mariona, Gracia-Lavedan, Esther, Dierssen-Sotos, Trinidad, Gomez-Acebo, Ines, Pow-Sang, Julio, Park, Hyun, Zachariah, Babu, Kluzniak, Wojciech, Kolb, Suzanne, Klarskov, Peter, Stegmaier, Christa, Vogel, Walther, Herkommer, Kathleen, Bohnert, Philipp, Maia, Sofia, Silva, Maria P., De Langhe, Sofie, Thierens, Hubert, Tan, Meng H., Ong, Aik T., Kastelan, Zeljko, Popov, Elenko, Kachakova, Darina, Mitkova, Atanaska, Vlahova, Aleksandrina, Dikov, Tihomir, Christova, Svetlana, Carracedo, Angel, Bangma, Christopher, Schroder, F. H., Cenee, Sylvie, Tretarre, Brigitte, Rebillard, Xavier, Mulot, Claire, Sanchez, Marie, Adolfsson, Jan, Stattin, Par, Johansson, Jan-Erik, Cavalli-Bjoerkman, Carin, Karlsson, Ami, Broms, Michael, Wu, Huihai, Tillmans, Lori, Riska, Shaun, Freedman, Matthew, Wiklund, Fredrik, Chanock, Stephen, Henderson, Brian E., Easton, Douglas F., Haiman, Christopher A., Eeles, Rosalind A., Conti, David V., and Kote-Jarai, Zsofia

Abstract

Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.

Published
2018
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50. Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

Author

Gusev, Alexander, Shi, Huwenbo, Kichaev, Gleb, Pomerantz, Mark, Li, Fugen, Long, Henry W., Ingles, Sue A., Kittles, Rick A., Strom, Sara S., Rybicki, Benjamin A., Nemesure, Barbara, Isaacs, William B., Zheng, Wei, Pettaway, Curtis A., Yeboah, Edward D., Tettey, Yao, Biritwum, Richard B., Adjei, Andrew A., Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Chokkalingam, Anand P., John, Esther M., Murphy, Adam B., Signorello, Lisa B., Carpten, John, Leske, M. Cristina, Wu, Suh-Yuh, Hennis, Anslem J. M., Neslund-Dudas, Christine, Hsing, Ann W., Chu, Lisa, Goodman, Phyllis J., Klein, Eric A., Witte, John S., Casey, Graham, Kaggwa, Sam, Cook, Michael B., Stram, Daniel O., Blot, William J., Eeles, Rosalind A., Easton, Douglas, Kote-Jarai, ZSofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Southey, Melissa C., Fitzgerald, Liesel M., Gronberg, Henrik, Wiklund, Fredrik, Aly, Markus, Henderson, Brian E., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo L. J., Nordestgaard, Børge G., Key, Tim J., Travis, Ruth C., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L., Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., Maier, Christiane, Vogel, Walther, Luedeke, Manuel, Herkommer, Kathleen, Kibel, Adam S., Cybulski, Cezary, Wokolorczyk, Dominika, Kluzniak, Wojciech, Cannon-Albright, Lisa, Teerlink, Craig, Brenner, Hermann, Dieffenbach, Aida K., Arndt, Volker, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Slavov, Chavdar, Kaneva, Radka, Mitev, Vanio, Batra, Jyotsna, Spurdle, Amanda, Clements, Judith A., Teixeira, Manuel R., Pandha, Hardev, Michael, Agnieszka, Paulo, Paula, Maia, Sofia, Kierzek, Andrzej, Cook, Margaret, Guy, Michelle, Govindasami, Koveela, Leongamornlert, Daniel, Sawyer, Emma J., Wilkinson, Rosemary, Saunders, Edward J., Tymrakiewicz, Malgorzata, Dadaev, Tokhir, Morgan, Angela, Fisher, Cyril, Hazel, Steve, Livni, Naomi, Lophatananon, Artitaya, Pedersen, John, Hopper, John L., Adolfson, Jan, Stattin, Paer, Johansson, Jan-Erik, Cavalli-Bjoerkman, Carin, Karlsson, Ami, Broms, Michael, Auvinen, Anssi, Kujala, Paula, Maeaettaenen, Liisa, Murtola, Teemu, Taari, Kimmo, Weischer, Maren, Nielsen, Sune F., Klarskov, Peter, Roder, Andreas, Iversen, Peter, Wallinder, Hans, Gustafsson, Sven, Cox, Angela, Brown, Paul, George, Anne, Marsden, Gemma, Lane, Athene, Davis, Michael, Tillmans, Lori, Riska, Shaun, Wang, Liang, Rinckleb, Antje, Lubiski, Jan, Stegmaier, Christa, Pow-Sang, Julio, Park, Hyun, Radlein, Selina, Rincon, Maria, Haley, James, Zachariah, Babu, Kachakova, Darina, Popov, Elenko, Mitkova, Atanaska, Vlahova, Aleksandrina, Dikov, Tihomir, Christova, Svetlana, Heathcote, Peter, Wood, Glenn, Malone, Greg, Saunders, Pamela, Eckert, Allison, Yeadon, Trina, Kerr, Kris, Collins, Angus, Turner, Megan, Srinivasan, Srilakshmi, Kedda, Mary-Anne, Alexander, Kimberly, Omara, Tracy, Wu, Huihai, Henrique, Rui, Pinto, Pedro, Santos, Joana, Barros-Silva, Joao, Conti, David V., Albanes, Demetrius, Berg, Christine, Berndt, Sonja I., Campa, Daniele, Crawford, E. David, Diver, W. Ryan, Gapstur, Susan M., Gaziano, J. Michael, Giovannucci, Edward, Hoover, Robert, Hunter, David J., Johansson, Mattias, Kraft, Peter, Le Marchand, Loic, Lindström, Sara, Navarro, Carmen, Overvad, Kim, Riboli, Elio, Siddiq, Afshan, Stevens, Victoria L., Trichopoulos, Dimitrios, Vineis, Paolo, Yeager, Meredith, Trynka, Gosia, Raychaudhuri, Soumya, Schumacher, Frederick R., Price, Alkes L., Freedman, Matthew L., Haiman, Christopher A., and Pasaniuc, Bogdan

Abstract

Although genome-wide association studies have identified over 100 risk loci that explain ∼33% of familial risk for prostate cancer (PrCa), their functional effects on risk remain largely unknown. Here we use genotype data from 59,089 men of European and African American ancestries combined with cell-type-specific epigenetic data to build a genomic atlas of single-nucleotide polymorphism (SNP) heritability in PrCa. We find significant differences in heritability between variants in prostate-relevant epigenetic marks defined in normal versus tumour tissue as well as between tissue and cell lines. The majority of SNP heritability lies in regions marked by H3k27 acetylation in prostate adenoc7arcinoma cell line (LNCaP) or by DNaseI hypersensitive sites in cancer cell lines. We find a high degree of similarity between European and African American ancestries suggesting a similar genetic architecture from common variation underlying PrCa risk. Our findings showcase the power of integrating functional annotation with genetic data to understand the genetic basis of PrCa.

Published
2016
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