No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene i...
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2021 |
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In: Journal of Clinical Medicine - MDPI AG, 2013, 10(2021), 13, p 2856 |
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volume:10 ; year:2021 ; number:13, p 2856 |
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DOI / URN: |
10.3390/jcm10132856 |
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DOAJ002476738 |
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245 | 1 | 0 | |a No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study |
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520 | |a Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. | ||
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700 | 0 | |a Finlay Macrae |e verfasserin |4 aut | |
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700 | 0 | |a Lior Katz |e verfasserin |4 aut | |
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700 | 0 | |a Wolff Schmiegel |e verfasserin |4 aut | |
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700 | 0 | |a Emma J. Crosbie |e verfasserin |4 aut | |
700 | 0 | |a Marta Pineda |e verfasserin |4 aut | |
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700 | 0 | |a Toni T. Seppälä |e verfasserin |4 aut | |
700 | 0 | |a Pål Møller |e verfasserin |4 aut | |
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10.3390/jcm10132856 doi (DE-627)DOAJ002476738 (DE-599)DOAJ4fc9f75bb91843508877732e2f2cd643 DE-627 ger DE-627 rakwb eng Mev Dominguez-Valentin verfasserin aut No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. <i<MLH1</i< <i<MSH2</i< penetrance cancer incidence truncating missense Medicine R John-Paul Plazzer verfasserin aut Julian R. Sampson verfasserin aut Christoph Engel verfasserin aut Stefan Aretz verfasserin aut Mark A. Jenkins verfasserin aut Lone Sunde verfasserin aut Inge Bernstein verfasserin aut Gabriel Capella verfasserin aut Francesc Balaguer verfasserin aut Finlay Macrae verfasserin aut Ingrid M. Winship verfasserin aut Huw Thomas verfasserin aut Dafydd Gareth Evans verfasserin aut John Burn verfasserin aut Marc Greenblatt verfasserin aut Wouter H. de Vos tot Nederveen Cappel verfasserin aut Rolf H. Sijmons verfasserin aut Maartje Nielsen verfasserin aut Lucio Bertario verfasserin aut Bernardo Bonanni verfasserin aut Maria Grazia Tibiletti verfasserin aut Giulia Martina Cavestro verfasserin aut Annika Lindblom verfasserin aut Adriana Della Valle verfasserin aut Francisco Lopez-Kostner verfasserin aut Karin Alvarez verfasserin aut Nathan Gluck verfasserin aut Lior Katz verfasserin aut Karl Heinimann verfasserin aut Carlos A. Vaccaro verfasserin aut Sigve Nakken verfasserin aut Eivind Hovig verfasserin aut Kate Green verfasserin aut Fiona Lalloo verfasserin aut James Hill verfasserin aut Hans F. A. Vasen verfasserin aut Claudia Perne verfasserin aut Reinhard Büttner verfasserin aut Heike Görgens verfasserin aut Elke Holinski-Feder verfasserin aut Monika Morak verfasserin aut Stefanie Holzapfel verfasserin aut Robert Hüneburg verfasserin aut Magnus von Knebel Doeberitz verfasserin aut Markus Loeffler verfasserin aut Nils Rahner verfasserin aut Jürgen Weitz verfasserin aut Verena Steinke-Lange verfasserin aut Wolff Schmiegel verfasserin aut Deepak Vangala verfasserin aut Emma J. Crosbie verfasserin aut Marta Pineda verfasserin aut Matilde Navarro verfasserin aut Joan Brunet verfasserin aut Leticia Moreira verfasserin aut Ariadna Sánchez verfasserin aut Miquel Serra-Burriel verfasserin aut Miriam Mints verfasserin aut Revital Kariv verfasserin aut Guy Rosner verfasserin aut Tamara Alejandra Piñero verfasserin aut Walter Hernán Pavicic verfasserin aut Pablo Kalfayan verfasserin aut Sanne W. ten Broeke verfasserin aut Jukka-Pekka Mecklin verfasserin aut Kirsi Pylvänäinen verfasserin aut Laura Renkonen-Sinisalo verfasserin aut Anna Lepistö verfasserin aut Päivi Peltomäki verfasserin aut John L. Hopper verfasserin aut Aung Ko Win verfasserin aut Daniel D. Buchanan verfasserin aut Noralane M. Lindor verfasserin aut Steven Gallinger verfasserin aut Loïc Le Marchand verfasserin aut Polly A. Newcomb verfasserin aut Jane C. Figueiredo verfasserin aut Stephen N. Thibodeau verfasserin aut Christina Therkildsen verfasserin aut Thomas V. O. Hansen verfasserin aut Lars Lindberg verfasserin aut Einar Andreas Rødland verfasserin aut Florencia Neffa verfasserin aut Patricia Esperon verfasserin aut Douglas Tjandra verfasserin aut Gabriela Möslein verfasserin aut Toni T. Seppälä verfasserin aut Pål Møller verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 10(2021), 13, p 2856 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:10 year:2021 number:13, p 2856 https://doi.org/10.3390/jcm10132856 kostenfrei https://doaj.org/article/4fc9f75bb91843508877732e2f2cd643 kostenfrei https://www.mdpi.com/2077-0383/10/13/2856 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 13, p 2856 |
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10.3390/jcm10132856 doi (DE-627)DOAJ002476738 (DE-599)DOAJ4fc9f75bb91843508877732e2f2cd643 DE-627 ger DE-627 rakwb eng Mev Dominguez-Valentin verfasserin aut No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. <i<MLH1</i< <i<MSH2</i< penetrance cancer incidence truncating missense Medicine R John-Paul Plazzer verfasserin aut Julian R. Sampson verfasserin aut Christoph Engel verfasserin aut Stefan Aretz verfasserin aut Mark A. Jenkins verfasserin aut Lone Sunde verfasserin aut Inge Bernstein verfasserin aut Gabriel Capella verfasserin aut Francesc Balaguer verfasserin aut Finlay Macrae verfasserin aut Ingrid M. Winship verfasserin aut Huw Thomas verfasserin aut Dafydd Gareth Evans verfasserin aut John Burn verfasserin aut Marc Greenblatt verfasserin aut Wouter H. de Vos tot Nederveen Cappel verfasserin aut Rolf H. Sijmons verfasserin aut Maartje Nielsen verfasserin aut Lucio Bertario verfasserin aut Bernardo Bonanni verfasserin aut Maria Grazia Tibiletti verfasserin aut Giulia Martina Cavestro verfasserin aut Annika Lindblom verfasserin aut Adriana Della Valle verfasserin aut Francisco Lopez-Kostner verfasserin aut Karin Alvarez verfasserin aut Nathan Gluck verfasserin aut Lior Katz verfasserin aut Karl Heinimann verfasserin aut Carlos A. Vaccaro verfasserin aut Sigve Nakken verfasserin aut Eivind Hovig verfasserin aut Kate Green verfasserin aut Fiona Lalloo verfasserin aut James Hill verfasserin aut Hans F. A. Vasen verfasserin aut Claudia Perne verfasserin aut Reinhard Büttner verfasserin aut Heike Görgens verfasserin aut Elke Holinski-Feder verfasserin aut Monika Morak verfasserin aut Stefanie Holzapfel verfasserin aut Robert Hüneburg verfasserin aut Magnus von Knebel Doeberitz verfasserin aut Markus Loeffler verfasserin aut Nils Rahner verfasserin aut Jürgen Weitz verfasserin aut Verena Steinke-Lange verfasserin aut Wolff Schmiegel verfasserin aut Deepak Vangala verfasserin aut Emma J. Crosbie verfasserin aut Marta Pineda verfasserin aut Matilde Navarro verfasserin aut Joan Brunet verfasserin aut Leticia Moreira verfasserin aut Ariadna Sánchez verfasserin aut Miquel Serra-Burriel verfasserin aut Miriam Mints verfasserin aut Revital Kariv verfasserin aut Guy Rosner verfasserin aut Tamara Alejandra Piñero verfasserin aut Walter Hernán Pavicic verfasserin aut Pablo Kalfayan verfasserin aut Sanne W. ten Broeke verfasserin aut Jukka-Pekka Mecklin verfasserin aut Kirsi Pylvänäinen verfasserin aut Laura Renkonen-Sinisalo verfasserin aut Anna Lepistö verfasserin aut Päivi Peltomäki verfasserin aut John L. Hopper verfasserin aut Aung Ko Win verfasserin aut Daniel D. Buchanan verfasserin aut Noralane M. Lindor verfasserin aut Steven Gallinger verfasserin aut Loïc Le Marchand verfasserin aut Polly A. Newcomb verfasserin aut Jane C. Figueiredo verfasserin aut Stephen N. Thibodeau verfasserin aut Christina Therkildsen verfasserin aut Thomas V. O. Hansen verfasserin aut Lars Lindberg verfasserin aut Einar Andreas Rødland verfasserin aut Florencia Neffa verfasserin aut Patricia Esperon verfasserin aut Douglas Tjandra verfasserin aut Gabriela Möslein verfasserin aut Toni T. Seppälä verfasserin aut Pål Møller verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 10(2021), 13, p 2856 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:10 year:2021 number:13, p 2856 https://doi.org/10.3390/jcm10132856 kostenfrei https://doaj.org/article/4fc9f75bb91843508877732e2f2cd643 kostenfrei https://www.mdpi.com/2077-0383/10/13/2856 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 13, p 2856 |
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10.3390/jcm10132856 doi (DE-627)DOAJ002476738 (DE-599)DOAJ4fc9f75bb91843508877732e2f2cd643 DE-627 ger DE-627 rakwb eng Mev Dominguez-Valentin verfasserin aut No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. <i<MLH1</i< <i<MSH2</i< penetrance cancer incidence truncating missense Medicine R John-Paul Plazzer verfasserin aut Julian R. Sampson verfasserin aut Christoph Engel verfasserin aut Stefan Aretz verfasserin aut Mark A. Jenkins verfasserin aut Lone Sunde verfasserin aut Inge Bernstein verfasserin aut Gabriel Capella verfasserin aut Francesc Balaguer verfasserin aut Finlay Macrae verfasserin aut Ingrid M. Winship verfasserin aut Huw Thomas verfasserin aut Dafydd Gareth Evans verfasserin aut John Burn verfasserin aut Marc Greenblatt verfasserin aut Wouter H. de Vos tot Nederveen Cappel verfasserin aut Rolf H. Sijmons verfasserin aut Maartje Nielsen verfasserin aut Lucio Bertario verfasserin aut Bernardo Bonanni verfasserin aut Maria Grazia Tibiletti verfasserin aut Giulia Martina Cavestro verfasserin aut Annika Lindblom verfasserin aut Adriana Della Valle verfasserin aut Francisco Lopez-Kostner verfasserin aut Karin Alvarez verfasserin aut Nathan Gluck verfasserin aut Lior Katz verfasserin aut Karl Heinimann verfasserin aut Carlos A. Vaccaro verfasserin aut Sigve Nakken verfasserin aut Eivind Hovig verfasserin aut Kate Green verfasserin aut Fiona Lalloo verfasserin aut James Hill verfasserin aut Hans F. A. Vasen verfasserin aut Claudia Perne verfasserin aut Reinhard Büttner verfasserin aut Heike Görgens verfasserin aut Elke Holinski-Feder verfasserin aut Monika Morak verfasserin aut Stefanie Holzapfel verfasserin aut Robert Hüneburg verfasserin aut Magnus von Knebel Doeberitz verfasserin aut Markus Loeffler verfasserin aut Nils Rahner verfasserin aut Jürgen Weitz verfasserin aut Verena Steinke-Lange verfasserin aut Wolff Schmiegel verfasserin aut Deepak Vangala verfasserin aut Emma J. Crosbie verfasserin aut Marta Pineda verfasserin aut Matilde Navarro verfasserin aut Joan Brunet verfasserin aut Leticia Moreira verfasserin aut Ariadna Sánchez verfasserin aut Miquel Serra-Burriel verfasserin aut Miriam Mints verfasserin aut Revital Kariv verfasserin aut Guy Rosner verfasserin aut Tamara Alejandra Piñero verfasserin aut Walter Hernán Pavicic verfasserin aut Pablo Kalfayan verfasserin aut Sanne W. ten Broeke verfasserin aut Jukka-Pekka Mecklin verfasserin aut Kirsi Pylvänäinen verfasserin aut Laura Renkonen-Sinisalo verfasserin aut Anna Lepistö verfasserin aut Päivi Peltomäki verfasserin aut John L. Hopper verfasserin aut Aung Ko Win verfasserin aut Daniel D. Buchanan verfasserin aut Noralane M. Lindor verfasserin aut Steven Gallinger verfasserin aut Loïc Le Marchand verfasserin aut Polly A. Newcomb verfasserin aut Jane C. Figueiredo verfasserin aut Stephen N. Thibodeau verfasserin aut Christina Therkildsen verfasserin aut Thomas V. O. Hansen verfasserin aut Lars Lindberg verfasserin aut Einar Andreas Rødland verfasserin aut Florencia Neffa verfasserin aut Patricia Esperon verfasserin aut Douglas Tjandra verfasserin aut Gabriela Möslein verfasserin aut Toni T. Seppälä verfasserin aut Pål Møller verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 10(2021), 13, p 2856 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:10 year:2021 number:13, p 2856 https://doi.org/10.3390/jcm10132856 kostenfrei https://doaj.org/article/4fc9f75bb91843508877732e2f2cd643 kostenfrei https://www.mdpi.com/2077-0383/10/13/2856 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 13, p 2856 |
allfieldsGer |
10.3390/jcm10132856 doi (DE-627)DOAJ002476738 (DE-599)DOAJ4fc9f75bb91843508877732e2f2cd643 DE-627 ger DE-627 rakwb eng Mev Dominguez-Valentin verfasserin aut No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. <i<MLH1</i< <i<MSH2</i< penetrance cancer incidence truncating missense Medicine R John-Paul Plazzer verfasserin aut Julian R. Sampson verfasserin aut Christoph Engel verfasserin aut Stefan Aretz verfasserin aut Mark A. Jenkins verfasserin aut Lone Sunde verfasserin aut Inge Bernstein verfasserin aut Gabriel Capella verfasserin aut Francesc Balaguer verfasserin aut Finlay Macrae verfasserin aut Ingrid M. Winship verfasserin aut Huw Thomas verfasserin aut Dafydd Gareth Evans verfasserin aut John Burn verfasserin aut Marc Greenblatt verfasserin aut Wouter H. de Vos tot Nederveen Cappel verfasserin aut Rolf H. Sijmons verfasserin aut Maartje Nielsen verfasserin aut Lucio Bertario verfasserin aut Bernardo Bonanni verfasserin aut Maria Grazia Tibiletti verfasserin aut Giulia Martina Cavestro verfasserin aut Annika Lindblom verfasserin aut Adriana Della Valle verfasserin aut Francisco Lopez-Kostner verfasserin aut Karin Alvarez verfasserin aut Nathan Gluck verfasserin aut Lior Katz verfasserin aut Karl Heinimann verfasserin aut Carlos A. Vaccaro verfasserin aut Sigve Nakken verfasserin aut Eivind Hovig verfasserin aut Kate Green verfasserin aut Fiona Lalloo verfasserin aut James Hill verfasserin aut Hans F. A. Vasen verfasserin aut Claudia Perne verfasserin aut Reinhard Büttner verfasserin aut Heike Görgens verfasserin aut Elke Holinski-Feder verfasserin aut Monika Morak verfasserin aut Stefanie Holzapfel verfasserin aut Robert Hüneburg verfasserin aut Magnus von Knebel Doeberitz verfasserin aut Markus Loeffler verfasserin aut Nils Rahner verfasserin aut Jürgen Weitz verfasserin aut Verena Steinke-Lange verfasserin aut Wolff Schmiegel verfasserin aut Deepak Vangala verfasserin aut Emma J. Crosbie verfasserin aut Marta Pineda verfasserin aut Matilde Navarro verfasserin aut Joan Brunet verfasserin aut Leticia Moreira verfasserin aut Ariadna Sánchez verfasserin aut Miquel Serra-Burriel verfasserin aut Miriam Mints verfasserin aut Revital Kariv verfasserin aut Guy Rosner verfasserin aut Tamara Alejandra Piñero verfasserin aut Walter Hernán Pavicic verfasserin aut Pablo Kalfayan verfasserin aut Sanne W. ten Broeke verfasserin aut Jukka-Pekka Mecklin verfasserin aut Kirsi Pylvänäinen verfasserin aut Laura Renkonen-Sinisalo verfasserin aut Anna Lepistö verfasserin aut Päivi Peltomäki verfasserin aut John L. Hopper verfasserin aut Aung Ko Win verfasserin aut Daniel D. Buchanan verfasserin aut Noralane M. Lindor verfasserin aut Steven Gallinger verfasserin aut Loïc Le Marchand verfasserin aut Polly A. Newcomb verfasserin aut Jane C. Figueiredo verfasserin aut Stephen N. Thibodeau verfasserin aut Christina Therkildsen verfasserin aut Thomas V. O. Hansen verfasserin aut Lars Lindberg verfasserin aut Einar Andreas Rødland verfasserin aut Florencia Neffa verfasserin aut Patricia Esperon verfasserin aut Douglas Tjandra verfasserin aut Gabriela Möslein verfasserin aut Toni T. Seppälä verfasserin aut Pål Møller verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 10(2021), 13, p 2856 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:10 year:2021 number:13, p 2856 https://doi.org/10.3390/jcm10132856 kostenfrei https://doaj.org/article/4fc9f75bb91843508877732e2f2cd643 kostenfrei https://www.mdpi.com/2077-0383/10/13/2856 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 13, p 2856 |
allfieldsSound |
10.3390/jcm10132856 doi (DE-627)DOAJ002476738 (DE-599)DOAJ4fc9f75bb91843508877732e2f2cd643 DE-627 ger DE-627 rakwb eng Mev Dominguez-Valentin verfasserin aut No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. <i<MLH1</i< <i<MSH2</i< penetrance cancer incidence truncating missense Medicine R John-Paul Plazzer verfasserin aut Julian R. Sampson verfasserin aut Christoph Engel verfasserin aut Stefan Aretz verfasserin aut Mark A. Jenkins verfasserin aut Lone Sunde verfasserin aut Inge Bernstein verfasserin aut Gabriel Capella verfasserin aut Francesc Balaguer verfasserin aut Finlay Macrae verfasserin aut Ingrid M. Winship verfasserin aut Huw Thomas verfasserin aut Dafydd Gareth Evans verfasserin aut John Burn verfasserin aut Marc Greenblatt verfasserin aut Wouter H. de Vos tot Nederveen Cappel verfasserin aut Rolf H. Sijmons verfasserin aut Maartje Nielsen verfasserin aut Lucio Bertario verfasserin aut Bernardo Bonanni verfasserin aut Maria Grazia Tibiletti verfasserin aut Giulia Martina Cavestro verfasserin aut Annika Lindblom verfasserin aut Adriana Della Valle verfasserin aut Francisco Lopez-Kostner verfasserin aut Karin Alvarez verfasserin aut Nathan Gluck verfasserin aut Lior Katz verfasserin aut Karl Heinimann verfasserin aut Carlos A. Vaccaro verfasserin aut Sigve Nakken verfasserin aut Eivind Hovig verfasserin aut Kate Green verfasserin aut Fiona Lalloo verfasserin aut James Hill verfasserin aut Hans F. A. Vasen verfasserin aut Claudia Perne verfasserin aut Reinhard Büttner verfasserin aut Heike Görgens verfasserin aut Elke Holinski-Feder verfasserin aut Monika Morak verfasserin aut Stefanie Holzapfel verfasserin aut Robert Hüneburg verfasserin aut Magnus von Knebel Doeberitz verfasserin aut Markus Loeffler verfasserin aut Nils Rahner verfasserin aut Jürgen Weitz verfasserin aut Verena Steinke-Lange verfasserin aut Wolff Schmiegel verfasserin aut Deepak Vangala verfasserin aut Emma J. Crosbie verfasserin aut Marta Pineda verfasserin aut Matilde Navarro verfasserin aut Joan Brunet verfasserin aut Leticia Moreira verfasserin aut Ariadna Sánchez verfasserin aut Miquel Serra-Burriel verfasserin aut Miriam Mints verfasserin aut Revital Kariv verfasserin aut Guy Rosner verfasserin aut Tamara Alejandra Piñero verfasserin aut Walter Hernán Pavicic verfasserin aut Pablo Kalfayan verfasserin aut Sanne W. ten Broeke verfasserin aut Jukka-Pekka Mecklin verfasserin aut Kirsi Pylvänäinen verfasserin aut Laura Renkonen-Sinisalo verfasserin aut Anna Lepistö verfasserin aut Päivi Peltomäki verfasserin aut John L. Hopper verfasserin aut Aung Ko Win verfasserin aut Daniel D. Buchanan verfasserin aut Noralane M. Lindor verfasserin aut Steven Gallinger verfasserin aut Loïc Le Marchand verfasserin aut Polly A. Newcomb verfasserin aut Jane C. Figueiredo verfasserin aut Stephen N. Thibodeau verfasserin aut Christina Therkildsen verfasserin aut Thomas V. O. Hansen verfasserin aut Lars Lindberg verfasserin aut Einar Andreas Rødland verfasserin aut Florencia Neffa verfasserin aut Patricia Esperon verfasserin aut Douglas Tjandra verfasserin aut Gabriela Möslein verfasserin aut Toni T. Seppälä verfasserin aut Pål Møller verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 10(2021), 13, p 2856 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:10 year:2021 number:13, p 2856 https://doi.org/10.3390/jcm10132856 kostenfrei https://doaj.org/article/4fc9f75bb91843508877732e2f2cd643 kostenfrei https://www.mdpi.com/2077-0383/10/13/2856 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 13, p 2856 |
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Mev Dominguez-Valentin @@aut@@ John-Paul Plazzer @@aut@@ Julian R. Sampson @@aut@@ Christoph Engel @@aut@@ Stefan Aretz @@aut@@ Mark A. Jenkins @@aut@@ Lone Sunde @@aut@@ Inge Bernstein @@aut@@ Gabriel Capella @@aut@@ Francesc Balaguer @@aut@@ Finlay Macrae @@aut@@ Ingrid M. Winship @@aut@@ Huw Thomas @@aut@@ Dafydd Gareth Evans @@aut@@ John Burn @@aut@@ Marc Greenblatt @@aut@@ Wouter H. de Vos tot Nederveen Cappel @@aut@@ Rolf H. Sijmons @@aut@@ Maartje Nielsen @@aut@@ Lucio Bertario @@aut@@ Bernardo Bonanni @@aut@@ Maria Grazia Tibiletti @@aut@@ Giulia Martina Cavestro @@aut@@ Annika Lindblom @@aut@@ Adriana Della Valle @@aut@@ Francisco Lopez-Kostner @@aut@@ Karin Alvarez @@aut@@ Nathan Gluck @@aut@@ Lior Katz @@aut@@ Karl Heinimann @@aut@@ Carlos A. Vaccaro @@aut@@ Sigve Nakken @@aut@@ Eivind Hovig @@aut@@ Kate Green @@aut@@ Fiona Lalloo @@aut@@ James Hill @@aut@@ Hans F. A. Vasen @@aut@@ Claudia Perne @@aut@@ Reinhard Büttner @@aut@@ Heike Görgens @@aut@@ Elke Holinski-Feder @@aut@@ Monika Morak @@aut@@ Stefanie Holzapfel @@aut@@ Robert Hüneburg @@aut@@ Magnus von Knebel Doeberitz @@aut@@ Markus Loeffler @@aut@@ Nils Rahner @@aut@@ Jürgen Weitz @@aut@@ Verena Steinke-Lange @@aut@@ Wolff Schmiegel @@aut@@ Deepak Vangala @@aut@@ Emma J. Crosbie @@aut@@ Marta Pineda @@aut@@ Matilde Navarro @@aut@@ Joan Brunet @@aut@@ Leticia Moreira @@aut@@ Ariadna Sánchez @@aut@@ Miquel Serra-Burriel @@aut@@ Miriam Mints @@aut@@ Revital Kariv @@aut@@ Guy Rosner @@aut@@ Tamara Alejandra Piñero @@aut@@ Walter Hernán Pavicic @@aut@@ Pablo Kalfayan @@aut@@ Sanne W. ten Broeke @@aut@@ Jukka-Pekka Mecklin @@aut@@ Kirsi Pylvänäinen @@aut@@ Laura Renkonen-Sinisalo @@aut@@ Anna Lepistö @@aut@@ Päivi Peltomäki @@aut@@ John L. Hopper @@aut@@ Aung Ko Win @@aut@@ Daniel D. Buchanan @@aut@@ Noralane M. Lindor @@aut@@ Steven Gallinger @@aut@@ Loïc Le Marchand @@aut@@ Polly A. Newcomb @@aut@@ Jane C. Figueiredo @@aut@@ Stephen N. Thibodeau @@aut@@ Christina Therkildsen @@aut@@ Thomas V. O. Hansen @@aut@@ Lars Lindberg @@aut@@ Einar Andreas Rødland @@aut@@ Florencia Neffa @@aut@@ Patricia Esperon @@aut@@ Douglas Tjandra @@aut@@ Gabriela Möslein @@aut@@ Toni T. Seppälä @@aut@@ Pål Møller @@aut@@ |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ002476738</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240412171130.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230225s2021 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3390/jcm10132856</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ002476738</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ4fc9f75bb91843508877732e2f2cd643</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Mev Dominguez-Valentin</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a"><i<MLH1</i<</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a"><i<MSH2</i<</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">penetrance</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">cancer incidence</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">truncating</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">missense</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">John-Paul Plazzer</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Julian R. Sampson</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Christoph Engel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stefan Aretz</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Mark A. Jenkins</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lone Sunde</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Inge Bernstein</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Gabriel Capella</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Francesc Balaguer</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Finlay Macrae</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ingrid M. Winship</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Huw Thomas</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Dafydd Gareth Evans</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">John Burn</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Marc Greenblatt</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Wouter H. de Vos tot Nederveen Cappel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rolf H. 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Vaccaro</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Sigve Nakken</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Eivind Hovig</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Kate Green</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Fiona Lalloo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">James Hill</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Hans F. A. Vasen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Claudia Perne</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Reinhard Büttner</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Heike Görgens</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Elke Holinski-Feder</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Monika Morak</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stefanie Holzapfel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Robert Hüneburg</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Magnus von Knebel Doeberitz</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Markus Loeffler</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nils Rahner</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jürgen Weitz</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Verena Steinke-Lange</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Wolff Schmiegel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Deepak Vangala</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Emma J. Crosbie</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Marta Pineda</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Matilde Navarro</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Joan Brunet</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Leticia Moreira</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ariadna Sánchez</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Miquel Serra-Burriel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Miriam Mints</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Revital Kariv</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Guy Rosner</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Tamara Alejandra Piñero</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Walter Hernán Pavicic</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Pablo Kalfayan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Sanne W. ten Broeke</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jukka-Pekka Mecklin</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Kirsi Pylvänäinen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Laura Renkonen-Sinisalo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Anna Lepistö</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Päivi Peltomäki</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">John L. Hopper</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Aung Ko Win</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Daniel D. Buchanan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Noralane M. Lindor</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Steven Gallinger</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Loïc Le Marchand</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Polly A. Newcomb</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jane C. Figueiredo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stephen N. 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Seppälä</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Pål Møller</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Journal of Clinical Medicine</subfield><subfield code="d">MDPI AG, 2013</subfield><subfield code="g">10(2021), 13, p 2856</subfield><subfield code="w">(DE-627)718632478</subfield><subfield code="w">(DE-600)2662592-1</subfield><subfield code="x">20770383</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:10</subfield><subfield code="g">year:2021</subfield><subfield code="g">number:13, p 2856</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.3390/jcm10132856</subfield><subfield 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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study <i<MLH1</i< <i<MSH2</i< penetrance cancer incidence truncating missense |
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study |
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study |
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Mev Dominguez-Valentin John-Paul Plazzer Julian R. Sampson Christoph Engel Stefan Aretz Mark A. Jenkins Lone Sunde Inge Bernstein Gabriel Capella Francesc Balaguer Finlay Macrae Ingrid M. Winship Huw Thomas Dafydd Gareth Evans John Burn Marc Greenblatt Wouter H. de Vos tot Nederveen Cappel Rolf H. Sijmons Maartje Nielsen Lucio Bertario Bernardo Bonanni Maria Grazia Tibiletti Giulia Martina Cavestro Annika Lindblom Adriana Della Valle Francisco Lopez-Kostner Karin Alvarez Nathan Gluck Lior Katz Karl Heinimann Carlos A. Vaccaro Sigve Nakken Eivind Hovig Kate Green Fiona Lalloo James Hill Hans F. A. Vasen Claudia Perne Reinhard Büttner Heike Görgens Elke Holinski-Feder Monika Morak Stefanie Holzapfel Robert Hüneburg Magnus von Knebel Doeberitz Markus Loeffler Nils Rahner Jürgen Weitz Verena Steinke-Lange Wolff Schmiegel Deepak Vangala Emma J. Crosbie Marta Pineda Matilde Navarro Joan Brunet Leticia Moreira Ariadna Sánchez Miquel Serra-Burriel Miriam Mints Revital Kariv Guy Rosner Tamara Alejandra Piñero Walter Hernán Pavicic Pablo Kalfayan Sanne W. ten Broeke Jukka-Pekka Mecklin Kirsi Pylvänäinen Laura Renkonen-Sinisalo Anna Lepistö Päivi Peltomäki John L. Hopper Aung Ko Win Daniel D. Buchanan Noralane M. Lindor Steven Gallinger Loïc Le Marchand Polly A. Newcomb Jane C. Figueiredo Stephen N. Thibodeau Christina Therkildsen Thomas V. O. Hansen Lars Lindberg Einar Andreas Rødland Florencia Neffa Patricia Esperon Douglas Tjandra Gabriela Möslein Toni T. Seppälä Pål Møller |
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no difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in <i<mlh1</i< and <i<msh2</i<: a prospective lynch syndrome database study |
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study |
abstract |
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. |
abstractGer |
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. |
abstract_unstemmed |
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the <i<MLH1</i< and <i<MSH2</i< genes. Methods. Carriers of pathogenic variants of <i<MLH1</i< (<i<path_MLH1</i<) and <i<MSH2</i< (<i<path_MSH2</i<) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of <i<path MLH1</i< and <i<path_MSH2</i<. |
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i<MLH1</i< and <i<MSH2</i<: A Prospective Lynch Syndrome Database Study |
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https://doi.org/10.3390/jcm10132856 https://doaj.org/article/4fc9f75bb91843508877732e2f2cd643 https://www.mdpi.com/2077-0383/10/13/2856 https://doaj.org/toc/2077-0383 |
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John-Paul Plazzer Julian R. Sampson Christoph Engel Stefan Aretz Mark A. Jenkins Lone Sunde Inge Bernstein Gabriel Capella Francesc Balaguer Finlay Macrae Ingrid M. Winship Huw Thomas Dafydd Gareth Evans John Burn Marc Greenblatt Wouter H. de Vos tot Nederveen Cappel Rolf H. Sijmons Maartje Nielsen Lucio Bertario Bernardo Bonanni Maria Grazia Tibiletti Giulia Martina Cavestro Annika Lindblom Adriana Della Valle Francisco Lopez-Kostner Karin Alvarez Nathan Gluck Lior Katz Karl Heinimann Carlos A. Vaccaro Sigve Nakken Eivind Hovig Kate Green Fiona Lalloo James Hill Hans F. A. Vasen Claudia Perne Reinhard Büttner Heike Görgens Elke Holinski-Feder Monika Morak Stefanie Holzapfel Robert Hüneburg Magnus von Knebel Doeberitz Markus Loeffler Nils Rahner Jürgen Weitz Verena Steinke-Lange Wolff Schmiegel Deepak Vangala Emma J. Crosbie Marta Pineda Matilde Navarro Joan Brunet Leticia Moreira Ariadna Sánchez Miquel Serra-Burriel Miriam Mints Revital Kariv Guy Rosner Tamara Alejandra Piñero Walter Hernán Pavicic Pablo Kalfayan Sanne W. ten Broeke Jukka-Pekka Mecklin Kirsi Pylvänäinen Laura Renkonen-Sinisalo Anna Lepistö Päivi Peltomäki John L. Hopper Aung Ko Win Daniel D. Buchanan Noralane M. Lindor Steven Gallinger Loïc Le Marchand Polly A. Newcomb Jane C. Figueiredo Stephen N. Thibodeau Christina Therkildsen Thomas V. O. Hansen Lars Lindberg Einar Andreas Rødland Florencia Neffa Patricia Esperon Douglas Tjandra Gabriela Möslein Toni T. Seppälä Pål Møller |
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