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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Autor*in:	Mev Dominguez-Valentin [verfasserIn] John-Paul Plazzer [verfasserIn] Julian R. Sampson [verfasserIn] Christoph Engel [verfasserIn] Stefan Aretz [verfasserIn] Mark A. Jenkins [verfasserIn] Lone Sunde [verfasserIn] Inge Bernstein [verfasserIn] Gabriel Capella [verfasserIn] Francesc Balaguer [verfasserIn] Finlay Macrae [verfasserIn] Ingrid M. Winship [verfasserIn] Huw Thomas [verfasserIn] Dafydd Gareth Evans [verfasserIn] John Burn [verfasserIn] Marc Greenblatt [verfasserIn] Wouter H. de Vos tot Nederveen Cappel [verfasserIn] Rolf H. Sijmons [verfasserIn] Maartje Nielsen [verfasserIn] Lucio Bertario [verfasserIn] Bernardo Bonanni [verfasserIn] Maria Grazia Tibiletti [verfasserIn] Giulia Martina Cavestro [verfasserIn] Annika Lindblom [verfasserIn] Adriana Della Valle [verfasserIn] Francisco Lopez-Kostner [verfasserIn] Karin Alvarez [verfasserIn] Nathan Gluck [verfasserIn] Lior Katz [verfasserIn] Karl Heinimann [verfasserIn] Carlos A. Vaccaro [verfasserIn] Sigve Nakken [verfasserIn] Eivind Hovig [verfasserIn] Kate Green [verfasserIn] Fiona Lalloo [verfasserIn] James Hill [verfasserIn] Hans F. A. Vasen [verfasserIn] Claudia Perne [verfasserIn] Reinhard Büttner [verfasserIn] Heike Görgens [verfasserIn] Elke Holinski-Feder [verfasserIn] Monika Morak [verfasserIn] Stefanie Holzapfel [verfasserIn] Robert Hüneburg [verfasserIn] Magnus von Knebel Doeberitz [verfasserIn] Markus Loeffler [verfasserIn] Nils Rahner [verfasserIn] Jürgen Weitz [verfasserIn] Verena Steinke-Lange [verfasserIn] Wolff Schmiegel [verfasserIn] Deepak Vangala [verfasserIn] Emma J. Crosbie [verfasserIn] Marta Pineda [verfasserIn] Matilde Navarro [verfasserIn] Joan Brunet [verfasserIn] Leticia Moreira [verfasserIn] Ariadna Sánchez [verfasserIn] Miquel Serra-Burriel [verfasserIn] Miriam Mints [verfasserIn] Revital Kariv [verfasserIn] Guy Rosner [verfasserIn] Tamara Alejandra Piñero [verfasserIn] Walter Hernán Pavicic [verfasserIn] Pablo Kalfayan [verfasserIn] Sanne W. ten Broeke [verfasserIn] Jukka-Pekka Mecklin [verfasserIn] Kirsi Pylvänäinen [verfasserIn] Laura Renkonen-Sinisalo [verfasserIn] Anna Lepistö [verfasserIn] Päivi Peltomäki [verfasserIn] John L. Hopper [verfasserIn] Aung Ko Win [verfasserIn] Daniel D. Buchanan [verfasserIn] Noralane M. Lindor [verfasserIn] Steven Gallinger [verfasserIn] Loïc Le Marchand [verfasserIn] Polly A. Newcomb [verfasserIn] Jane C. Figueiredo [verfasserIn] Stephen N. Thibodeau [verfasserIn] Christina Therkildsen [verfasserIn] Thomas V. O. Hansen [verfasserIn] Lars Lindberg [verfasserIn] Einar Andreas Rødland [verfasserIn] Florencia Neffa [verfasserIn] Patricia Esperon [verfasserIn] Douglas Tjandra [verfasserIn] Gabriela Möslein [verfasserIn] Toni T. Seppälä [verfasserIn] Pål Møller [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	penetrance cancer incidence truncating missense

Übergeordnetes Werk:	In: Journal of Clinical Medicine - MDPI AG, 2013, 10(2021), 13, p 2856
Übergeordnetes Werk:	volume:10 ; year:2021 ; number:13, p 2856

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/jcm10132856

Katalog-ID:	DOAJ002476738

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100	0		\|a Mev Dominguez-Valentin \|e verfasserin \|4 aut
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
264		1	\|c 2021
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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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650		4	\|a missense
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700	0		\|a Finlay Macrae \|e verfasserin \|4 aut
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700	0		\|a John Burn \|e verfasserin \|4 aut
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700	0		\|a Bernardo Bonanni \|e verfasserin \|4 aut
700	0		\|a Maria Grazia Tibiletti \|e verfasserin \|4 aut
700	0		\|a Giulia Martina Cavestro \|e verfasserin \|4 aut
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700	0		\|a Adriana Della Valle \|e verfasserin \|4 aut
700	0		\|a Francisco Lopez-Kostner \|e verfasserin \|4 aut
700	0		\|a Karin Alvarez \|e verfasserin \|4 aut
700	0		\|a Nathan Gluck \|e verfasserin \|4 aut
700	0		\|a Lior Katz \|e verfasserin \|4 aut
700	0		\|a Karl Heinimann \|e verfasserin \|4 aut
700	0		\|a Carlos A. Vaccaro \|e verfasserin \|4 aut
700	0		\|a Sigve Nakken \|e verfasserin \|4 aut
700	0		\|a Eivind Hovig \|e verfasserin \|4 aut
700	0		\|a Kate Green \|e verfasserin \|4 aut
700	0		\|a Fiona Lalloo \|e verfasserin \|4 aut
700	0		\|a James Hill \|e verfasserin \|4 aut
700	0		\|a Hans F. A. Vasen \|e verfasserin \|4 aut
700	0		\|a Claudia Perne \|e verfasserin \|4 aut
700	0		\|a Reinhard Büttner \|e verfasserin \|4 aut
700	0		\|a Heike Görgens \|e verfasserin \|4 aut
700	0		\|a Elke Holinski-Feder \|e verfasserin \|4 aut
700	0		\|a Monika Morak \|e verfasserin \|4 aut
700	0		\|a Stefanie Holzapfel \|e verfasserin \|4 aut
700	0		\|a Robert Hüneburg \|e verfasserin \|4 aut
700	0		\|a Magnus von Knebel Doeberitz \|e verfasserin \|4 aut
700	0		\|a Markus Loeffler \|e verfasserin \|4 aut
700	0		\|a Nils Rahner \|e verfasserin \|4 aut
700	0		\|a Jürgen Weitz \|e verfasserin \|4 aut
700	0		\|a Verena Steinke-Lange \|e verfasserin \|4 aut
700	0		\|a Wolff Schmiegel \|e verfasserin \|4 aut
700	0		\|a Deepak Vangala \|e verfasserin \|4 aut
700	0		\|a Emma J. Crosbie \|e verfasserin \|4 aut
700	0		\|a Marta Pineda \|e verfasserin \|4 aut
700	0		\|a Matilde Navarro \|e verfasserin \|4 aut
700	0		\|a Joan Brunet \|e verfasserin \|4 aut
700	0		\|a Leticia Moreira \|e verfasserin \|4 aut
700	0		\|a Ariadna Sánchez \|e verfasserin \|4 aut
700	0		\|a Miquel Serra-Burriel \|e verfasserin \|4 aut
700	0		\|a Miriam Mints \|e verfasserin \|4 aut
700	0		\|a Revital Kariv \|e verfasserin \|4 aut
700	0		\|a Guy Rosner \|e verfasserin \|4 aut
700	0		\|a Tamara Alejandra Piñero \|e verfasserin \|4 aut
700	0		\|a Walter Hernán Pavicic \|e verfasserin \|4 aut
700	0		\|a Pablo Kalfayan \|e verfasserin \|4 aut
700	0		\|a Sanne W. ten Broeke \|e verfasserin \|4 aut
700	0		\|a Jukka-Pekka Mecklin \|e verfasserin \|4 aut
700	0		\|a Kirsi Pylvänäinen \|e verfasserin \|4 aut
700	0		\|a Laura Renkonen-Sinisalo \|e verfasserin \|4 aut
700	0		\|a Anna Lepistö \|e verfasserin \|4 aut
700	0		\|a Päivi Peltomäki \|e verfasserin \|4 aut
700	0		\|a John L. Hopper \|e verfasserin \|4 aut
700	0		\|a Aung Ko Win \|e verfasserin \|4 aut
700	0		\|a Daniel D. Buchanan \|e verfasserin \|4 aut
700	0		\|a Noralane M. Lindor \|e verfasserin \|4 aut
700	0		\|a Steven Gallinger \|e verfasserin \|4 aut
700	0		\|a Loïc Le Marchand \|e verfasserin \|4 aut
700	0		\|a Polly A. Newcomb \|e verfasserin \|4 aut
700	0		\|a Jane C. Figueiredo \|e verfasserin \|4 aut
700	0		\|a Stephen N. Thibodeau \|e verfasserin \|4 aut
700	0		\|a Christina Therkildsen \|e verfasserin \|4 aut
700	0		\|a Thomas V. O. Hansen \|e verfasserin \|4 aut
700	0		\|a Lars Lindberg \|e verfasserin \|4 aut
700	0		\|a Einar Andreas Rødland \|e verfasserin \|4 aut
700	0		\|a Florencia Neffa \|e verfasserin \|4 aut
700	0		\|a Patricia Esperon \|e verfasserin \|4 aut
700	0		\|a Douglas Tjandra \|e verfasserin \|4 aut
700	0		\|a Gabriela Möslein \|e verfasserin \|4 aut
700	0		\|a Toni T. Seppälä \|e verfasserin \|4 aut
700	0		\|a Pål Møller \|e verfasserin \|4 aut
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Indexfelder

author_variant	m d v mdv j p p jpp j r s jrs c e ce s a sa m a j maj l s ls i b ib g c gc f b fb f m fm i m w imw h t ht d g e dge j b jb m g mg w h d v t n c whdvtnc r h s rhs m n mn l b lb b b bb m g t mgt g m c gmc a l al a d v adv f l k flk k a ka n g ng l k lk k h kh c a v cav s n sn e h eh k g kg f l fl j h jh h f a v hfav c p cp r b rb h g hg e h f ehf m m mm s h sh r h rh m v k d mvkd m l ml n r nr j w jw v s l vsl w s ws d v dv e j c ejc m p mp m n mn j b jb l m lm a s as m s b msb m m mm r k rk g r gr t a p tap w h p whp p k pk s w t b swtb j p m jpm k p kp l r s lrs a l al p p pp j l h jlh a k w akw d d b ddb n m l nml s g sg l l m llm p a n pan j c f jcf s n t snt c t ct t v o h tvoh l l ll e a r ear f n fn p e pe d t dt g m gm t t s tts p m pm
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publishDate	2021
allfields	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
spelling	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
allfields_unstemmed	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
language	English
source	In Journal of Clinical Medicine 10(2021), 13, p 2856 volume:10 year:2021 number:13, p 2856
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container_title	Journal of Clinical Medicine
authorswithroles_txt_mv	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@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	718632478
id	DOAJ002476738
language_de	englisch
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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. 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author	Mev Dominguez-Valentin
spellingShingle	Mev Dominguez-Valentin misc <i<MLH1</i< misc <i<MSH2</i< misc penetrance misc cancer incidence misc truncating misc missense misc Medicine misc R 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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topic_title	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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title	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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title_full	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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author_browse	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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title_sort	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
title_auth	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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title_short	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
url	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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author2	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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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. 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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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Nicht das Richtige dabei?