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1. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Published
2021
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2. Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Author

Boot, Arnoud, Stojovska, Marija Staninova, Mahmood, Khalid, Clendenning, Mark, de Miranda, Noel, Dymerska, Dagmara, Egmond, Demi van, Gallinger, Steven, Georgeson, Peter, Hoogerbrugge, Nicoline, Hopper, John L., Jansen, Erik A.M., Jenkins, Mark A., Joo, Jihoon E., Kuiper, Roland P., Ligtenberg, Marjolijn J.L., Lubinski, Jan, Macrae, Finlay A., Morreau, Hans, Newcomb, Polly, Nielsen, Maartje, Palles, Claire, Park, Daniel J., Pope, Bernard J., Rosty, Christophe, Ruiz Ponte, Clara, Schackert, Hans K., Sijmons, Rolf H., Tomlinson, Ian P., Tops, Carli M.J., Vreede, Lilian, Walker, Romy, Win, Aung K., Elsayed, Fadwa A., Grolleman, Judith E., Ragunathan, Abiramy, Buchanan, Daniel D., van Wezel, Tom, and de Voer, Richarda M.

Published
2020
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3. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Author

Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, and Møller, Pål

Published
2020
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4. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development

Author

Weren, Robbert DA, Venkatachalam, Ramprasath, Cazier, Jean-Baptiste, Farin, Henner F, Kets, C Marleen, de Voer, Richarda M, Vreede, Lilian, Verwiel, Eugène TP, van Asseldonk, Monique, Kamping, Eveline J, Kiemeney, Lambertus A, Neveling, Kornelia, Aben, Katja KH, Carvajal-Carmona, Luis, Nagtegaal, Iris D, Schackert, Hans K, Clevers, Hans, van de Wetering, Marc, Tomlinson, Ian P, Ligtenberg, Marjolijn JL, Hoogerbrugge, Nicoline, Geurts van Kessel, Ad, and Kuiper, Roland P

Subjects
Prevention, Human Genome, Digestive Diseases, Genetics, Cancer, Colo-Rectal Cancer, Aetiology, 2.1 Biological and endogenous factors, Adenomatous Polyposis Coli, Adult, Case-Control Studies, Chromosomes, Human, Pair 9, Colorectal Neoplasms, DNA Copy Number Variations, Epithelial Cells, Female, Gene Deletion, Gene Expression Regulation, Neoplastic, Germ-Line Mutation, Heterozygote, Humans, Male, Middle Aged, Neoplasm Recurrence, Local, Open Reading Frames, Tumor Suppressor Proteins, polyposis and colorectal cancer, cancer predisposition, FOCAD, copy number variation, gene expression, Clinical Sciences, Pathology
Abstract

Heritable genetic variants can significantly affect the lifetime risk of developing cancer, including polyposis and colorectal cancer (CRC). Variants in genes currently known to be associated with a high risk for polyposis or CRC, however, explain only a limited number of hereditary cases. The identification of additional genetic causes is, therefore, crucial to improve CRC prevention, detection and treatment. We have performed genome-wide and targeted DNA copy number profiling and resequencing in early-onset and familial polyposis/CRC patients, and show that deletions affecting the open reading frame of the tumour suppressor gene FOCAD are recurrent and significantly enriched in CRC patients compared with unaffected controls. All patients carrying FOCAD deletions exhibited a personal or family history of polyposis. RNA in situ hybridization revealed FOCAD expression in epithelial cells in the colonic crypt, the site of tumour initiation, as well as in colonic tumours and organoids. Our data suggest that monoallelic germline deletions in the tumour suppressor gene FOCAD underlie moderate genetic predisposition to the development of polyposis and CRC.

Published
2015

5. No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies

Author

Engel, Christoph, Vasen, Hans F., Seppälä, Toni, Aretz, Stefan, Bigirwamungu-Bargeman, Marloes, de Boer, Sybrand Y., Bucksch, Karolin, Büttner, Reinhard, Holinski-Feder, Elke, Holzapfel, Stefanie, Hüneburg, Robert, Jacobs, Maarten A.J.M., Järvinen, Heikki, Kloor, Matthias, von Knebel Doeberitz, Magnus, Koornstra, Jan J., van Kouwen, Mariette, Langers, Alexandra M., van de Meeberg, Paul C., Morak, Monika, Möslein, Gabriela, Nagengast, Fokko M., Pylvänäinen, Kirsi, Rahner, Nils, Renkonen-Sinisalo, Laura, Sanduleanu, Silvia, Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Steinke-Lange, Verena, Strassburg, Christian P., Vecht, Juda, Verhulst, Marie-Louise, de Vos tot Nederveen Cappel, Wouter, Zachariae, Silke, Mecklin, Jukka-Pekka, and Loeffler, Markus

Published
2018
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7. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Author

Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, and Møller, Pål

Published
2020
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8. Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

Author

de Voer, Richarda M., Geurts van Kessel, Ad, Weren, Robbert D.A., Ligtenberg, Marjolijn J.L., Smeets, Dominique, Fu, Lei, Vreede, Lilian, Kamping, Eveline J., Verwiel, Eugène T.P., Hahn, Marc–Manuel, Ariaans, Maayke, Spruijt, Liesbeth, van Essen, Ton, Houge, Gunnar, Schackert, Hans K., Sheng, Jian Q., Venselaar, Hanka, van Ravenswaaij–Arts, Conny M.A., van Krieken, J. Han J.M., Hoogerbrugge, Nicoline, and Kuiper, Roland P.

Published
2013
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9. Cowden-Syndrom und juvenile Polypose

Author

Hahn, Matthias, Back, Walter, Schackert, Hans K., Aguzzi, Adriano, editor, Bielka, Heinz, editor, Herrmann, Falko, editor, Holsboer, Florian, editor, Kaufmann, Stefan H. E., editor, Scriba, Peter C., editor, Stock, Günter, editor, Hausen, Harald zur, editor, Ganten, Detlev, editor, Ruckpaul, Klaus, editor, Hahn, Stephan A., editor, and Schmiegel, Wolff, editor

Published
2001
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10. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Author

Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S, Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, and Ligtenberg, Marjolijn JL

Published
2011
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11. A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia

Author

Khandanpour, Cyrus, Thiede, Christian, Valk, Peter J.M., Sharif-Askari, Ehssan, Nückel, Holger, Lohmann, Dietmar, Horsthemke, Bernhard, Siffert, Winfried, Neubauer, Andreas, Grzeschik, Karl-Heinz, Bloomfield, Clara D., Marcucci, Guido, Maharry, Kati, Slovak, Marilyn L., van der Reijden, Bert A., Jansen, Joop H., Schackert, Hans K., Afshar, Khashayar, Schnittger, Susanne, Peeters, Justine K., Kroschinsky, Frank, Ehninger, Gerhard, Lowenberg, Bob, Dührsen, Ulrich, and Möröy, Tarik

Published
2010
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12. Variation in the Risk of Colorectal Cancer for Lynch Syndrome: A retrospective family cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa–ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, de Vargas, Aída Falcón, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S. C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V. O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A. W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Subjects
Article
Abstract

BACKGROUND: Current clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the average age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic variants in the same gene. We aimed to estimate how much penetrance varies between carriers of pathogenic variants in the same gene by sex and continent of residence of the carrier. METHODS: We studied 79,809 relatives from 5,255 families, of at least three relatives, in which at least one was a confirmed carrier of a pathogenic or likely pathogenic variant in a mismatch repair gene (1,829 MLH1, 2,179 MSH2, 798 MSH6, 449 PMS2), recruited in 15 countries from North America, Europe and Australasia by the collaborative centres of the International Mismatch Repair Consortium. We used modified segregation analysis conditioned on ascertainment to estimate the average penetrance and modelled unmeasured polygenic factors to estimate the variation in penetrance of colorectal cancer. The existence of familial risk factors modifying colorectal cancer risk for Lynch syndrome carriers was tested using a Wald p-value for the null hypothesis that the polygenic standard deviation is zero. FINDINGS: There was strong evidence of the existence of familial risk factors modifying colorectal cancer risk for Lynch syndrome carriers (pT variant. The variation was more prominent for MLH1 and MSH2 variant carriers; depending on gene, sex, and continent, with 7–56% of carriers having a risk of colorectal cancer to age 80 of less than 20%, and 9–44% having a risk of more than 80%, while only 10–19% had a risk of 40–60%. INTERPRETATION: Our study findings highlight the important role of risk modifiers, which could lead to personalised risk assessment for precision prevention and early detection of colorectal cancer for Lynch syndrome.

Published
2021

15. Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families

Author

Frank, Bernd, Burwinkel, Barbara, Bermejo, Justo Lorenzo, Försti, Asta, Hemminki, Kari, Houlston, Richard, Mangold, Elisabeth, Rahner, Nils, Friedl, Waltraut, Friedrichs, Nicolaus, Buettner, Reinhard, Engel, Christoph, Loeffler, Markus, Holinski-Feder, Elke, Morak, Monika, Keller, Gisela, Schackert, Hans K., Krüger, Stefan, Goecke, Timm, Moeslein, Gabriela, Kloor, Matthias, Gebert, Johannes, Kunstmann, Erdmute, Schulmann, Karsten, Rüschoff, Josef, and Propping, Peter

Published
2008
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21. Value of uppergastrointestinalendoscopy for gastric cancer surveillance in patients with Lynch syndrome

Author

Ladigan-Badura, Swetlana, Vangala, Deepak B., Engel, Christoph, Bucksch, Karolin, Hueneburg, Robert, Perne, Claudia, Nattermann, Jacob, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Weitz, Juergen, Kloor, Matthias, Kuhlkamp, Judith, Moeslein, Gabriela, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff, Pox, Christian, Schulmann, Karsten, Ladigan-Badura, Swetlana, Vangala, Deepak B., Engel, Christoph, Bucksch, Karolin, Hueneburg, Robert, Perne, Claudia, Nattermann, Jacob, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Weitz, Juergen, Kloor, Matthias, Kuhlkamp, Judith, Moeslein, Gabriela, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff, Pox, Christian, and Schulmann, Karsten

Abstract

In our study, we evaluated the effectiveness of upper gastrointestinal (GI) endoscopy as an instrument for early gastric cancer (GC) detection in Lynch syndrome (LS) patients by analyzing data from the registry of theGerman Consortium for Familial Intestinal Cancer. In a prospective, multicenter cohort study, 1128 out of 2009 registered individuals with confirmed LS underwent 5176 upper GI endoscopies. Compliance was good since 77.6% of upper GI endoscopies were completed within the recommended interval of 1 to 3 years. Forty-nine GC events were observed in 47 patients.MLH1(n = 21) andMSH2(n = 24) mutations were the most prevalent. GCs in patients undergoing regular surveillance were diagnosed significantly more often in an early-stage disease (UICC I) than GCs detected through symptoms (83% vs 25%;P= .0231). Thirty-two (68%) patients had a negative family history of GC. The median age at diagnosis was 51 years (range 28-66). Of all GC patients, 13 were diagnosed at an age younger than 45. Our study supports the recommendation of regular upper GI endoscopy surveillance for LS patients beginning no later than at the age of 30.

Published
2021

22. Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome

Author

Ladigan-Badura, Swetlana, Vangala, Deepak B., Engel, Christoph, Bucksch, Karolin, Hueneburg, Robert, Perne, Claudia, Nattermann, Jacob, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Weitz, Jürgen, Kloor, Matthias, Kuhlkamp, Judith, Nguyen, Huu Phuc, Moeslein, Gabriela, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff, Pox, Christian, Schulmann, Karsten, for Familial Intestinal Cancer, German Consortium, Ladigan-Badura, Swetlana, Vangala, Deepak B., Engel, Christoph, Bucksch, Karolin, Hueneburg, Robert, Perne, Claudia, Nattermann, Jacob, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Weitz, Jürgen, Kloor, Matthias, Kuhlkamp, Judith, Nguyen, Huu Phuc, Moeslein, Gabriela, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff, Pox, Christian, Schulmann, Karsten, and for Familial Intestinal Cancer, German Consortium

Abstract

In our study, we evaluated the effectiveness of upper gastrointestinal (GI) endoscopy as an instrument for early gastric cancer (GC) detection in Lynch syndrome (LS) patients by analyzing data from the registry of the German Consortium for Familial Intestinal Cancer. In a prospective, multicenter cohort study, 1128 out of 2009 registered individuals with confirmed LS underwent 5176 upper GI endoscopies. Compliance was good since 77.6% of upper GI endoscopies were completed within the recommended interval of 1 to 3 years. Forty-nine GC events were observed in 47 patients. MLH1 (n = 21) and MSH2 (n = 24) mutations were the most prevalent. GCs in patients undergoing regular surveillance were diagnosed significantly more often in an early-stage disease (UICC I) than GCs detected through symptoms (83% vs 25%; P = .0231). Thirty-two (68%) patients had a negative family history of GC. The median age at diagnosis was 51 years (range 28-66). Of all GC patients, 13 were diagnosed at an age younger than 45. Our study supports the recommendation of regular upper GI endoscopy surveillance for LS patients beginning no later than at the age of 30. What's new? Risk of gastric cancer (GC) is significantly increased among patients with Lynch syndrome (LS). GC screening in LS patients, however, is fraught with uncertainty, particularly regarding the use of esophagogastroduodenoscopy (EGD). The authors of this study investigated the use of EGD for regular GC surveillance in a German cohort of LS patients. Regular surveillance by EGD resulted in more frequent diagnosis and significant down-staging of GC, relative to detection via symptoms alone. In most cases, family history of GC was negative. This study supports recommendations for regular gastroscopic surveillance in LS patients starting by age 30.

Published
2021

24. The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1

Author

Krüger, Stefan, Engel, Christoph, Bier, Andrea, Silber, Ann-Sophie, Görgens, Heike, Mangold, Elisabeth, Pagenstecher, Constanze, Holinski-Feder, Elke, von Knebel Doeberitz, Magnus, Royer-Pokora, Brigitte, Dechant, Stefan, Pox, Christian, Rahner, Nils, Müller, Annegret, and Schackert, Hans K.

Published
2007
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27. Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3

Author

Yang, Rongxi, Chen, Bowang, Pfütze, Katrin, Buch, Stephan, Steinke, Verena, Holinski-Feder, Elke, Stöcker, Sarah, von Schönfels, Witigo, Becker, Thomas, Schackert, Hans K., Royer-Pokora, Brigitte, Kloor, Matthias, Schmiegel, Wolff H., Büttner, Reinhard, Engel, Christoph, Lascorz Puertolas, Jesus, Försti, Asta, Kunkel, Nelli, Bugert, Peter, Schreiber, Stefan, Krawczak, Michael, Schafmayer, Clemens, Propping, Peter, Hampe, Jochen, Hemminki, Kari, and Burwinkel, Barbara

Published
2014
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37. An American founder mutation in MLH1

Author

Tomsic, Jerneja, Liyanarachchi, Sandya, Hampel, Heather, Morak, Monika, Thomas, Brittany C., Raymond, Victoria M., Chittenden, Anu, Schackert, Hans K., Gruber, Stephen B., Syngal, Sapna, Viel, Alessandra, Holinski-Feder, Elke, Thibodeau, Stephen N., and de la Chapelle, Albert

Published
2012
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41. Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Author

Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, Han J. J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, and Ligtenberg, Marjolijn J.L.

Published
2011
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42. Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Author

Elsayed, Fadwa A., primary, Grolleman, Judith E., additional, Ragunathan, Abiramy, additional, Buchanan, Daniel D., additional, van Wezel, Tom, additional, de Voer, Richarda M., additional, Boot, Arnoud, additional, Stojovska, Marija Staninova, additional, Mahmood, Khalid, additional, Clendenning, Mark, additional, de Miranda, Noel, additional, Dymerska, Dagmara, additional, Egmond, Demi van, additional, Gallinger, Steven, additional, Georgeson, Peter, additional, Hoogerbrugge, Nicoline, additional, Hopper, John L., additional, Jansen, Erik A.M., additional, Jenkins, Mark A., additional, Joo, Jihoon E., additional, Kuiper, Roland P., additional, Ligtenberg, Marjolijn J.L., additional, Lubinski, Jan, additional, Macrae, Finlay A., additional, Morreau, Hans, additional, Newcomb, Polly, additional, Nielsen, Maartje, additional, Palles, Claire, additional, Park, Daniel J., additional, Pope, Bernard J., additional, Rosty, Christophe, additional, Ruiz Ponte, Clara, additional, Schackert, Hans K., additional, Sijmons, Rolf H., additional, Tomlinson, Ian P., additional, Tops, Carli M.J., additional, Vreede, Lilian, additional, Walker, Romy, additional, and Win, Aung K., additional

Published
2020
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43. Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility

Author

Lascorz, Jesús, Försti, Asta, Chen, Bowang, Buch, Stephan, Steinke, Verena, Rahner, Nils, Holinski-Feder, Elke, Morak, Monika, Schackert, Hans K., Görgens, Heike, Schulmann, Karsten, Goecke, Timm, Kloor, Matthias, Engel, Cristoph, Büttner, Reinhard, Kunkel, Nelli, Weires, Marianne, Hoffmeister, Michael, Pardini, Barbara, Naccarati, Alessio, Vodickova, Ludmila, Novotny, Jan, Schreiber, Stefan, Krawczak, Michael, Bröring, Clemens D., Völzke, Henry, Schafmayer, Clemens, Vodicka, Pavel, Chang-Claude, Jenny, Brenner, Hermann, Burwinkel, Barbara, Propping, Peter, Hampe, Jochen, and Hemminki, Kari

Published
2010
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45. Efficacy of Annual Colonoscopic Surveillance in Individuals With Hereditary Nonpolyposis Colorectal Cancer

Author

Engel, Christoph, Rahner, Nils, Schulmann, Karsten, Holinski–Feder, Elke, Goecke, Timm O., Schackert, Hans K., Kloor, Matthias, Steinke, Verena, Vogelsang, Holger, Möslein, Gabriela, Görgens, Heike, Dechant, Stefan, von Knebel Doeberitz, Magnus, Rüschoff, Josef, Friedrichs, Nicolaus, Büttner, Reinhard, Loeffler, Markus, Propping, Peter, and Schmiegel, Wolff

Published
2010
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46. Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study

Author

Krüger, Stefan, Silber, Ann-Sophie, Engel, Christoph, Görgens, Heike, Mangold, Elisabeth, Pagenstecher, Constanze, Holinski-Feder, Elke, von Knebel Doeberitz, Magnus, Moeslein, Gabriela, Dietmaier, Wolfgang, Stemmler, Susanne, Friedl, Waltraut, Rüschoff, Josef, and Schackert, Hans K

Published
2005
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47. HNPCC-associated small bowel cancer: Clinical and molecular characteristics

Author

Schulmann, Karsten, Brasch, Frank E., Kunstmann, Erdmute, Engel, Christoph, Pagenstecher, Constanze, Vogelsang, Holger, Krüger, Stefan, Vogel, Tilman, Knaebel, Hanns-Peter, Rüschoff, Josef, Hahn, Stephan A., Knebel-Doeberitz, Magnus V., Moeslein, Gabriela, Meltzer, Stephen J., Schackert, Hans K., Tympner, Christiane, Mangold, Elisabeth, and Schmiegel, Wolff

Published
2005
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50. An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

Author

Pistorius, Steffen, Klink, Barbara, Pablik, Jessica, Rump, Andreas, Aust, Daniela, Garzarolli, Marlene, Schrock, Evelin, and Schackert, Hans K.

Subjects
Diagnosis, Care and treatment, Case studies, Familial polyposis -- Case studies -- Diagnosis -- Care and treatment, Multiple hamartoma syndrome -- Case studies -- Diagnosis -- Care and treatment, Polyposis, Familial -- Case studies -- Diagnosis -- Care and treatment
Abstract

Author(s): Steffen Pistorius[sup.1,6] , Barbara Klink[sup.2,7] , Jessica Pablik[sup.3] , Andreas Rump[sup.2] , Daniela Aust[sup.3,7] , Marlene Garzarolli[sup.4] , Evelin Schröck[sup.2,7] and Hans K. Schackert[sup.5,6,7] Background Ganglioneuromatous polyposis (GP) is [...]

Published
2016
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