Cover Image

No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: 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...

Full description

Saved in:
Bibliographic Details
Main Authors: Dominguez-Valentin, Mev (Author) , Plazzer, John-Paul (Author) , Sampson, Julian R. (Author) , Engel, Christoph (Author) , Aretz, Stefan (Author) , Jenkins, Mark A. (Author) , Sunde, Lone (Author) , Bernstein, Inge (Author) , Capella, Gabriel (Author) , Balaguer, Francesc (Author) , Macrae, Finlay (Author) , Winship, Ingrid M. (Author) , Thomas, Huw (Author) , Evans, Dafydd Gareth (Author) , Burn, John (Author) , Greenblatt, Marc (Author) , de Vos tot Nederveen Cappel, Wouter H. (Author) , Sijmons, Rolf H. (Author) , Nielsen, Maartje (Author) , Bertario, Lucio (Author) , Bonanni, Bernardo (Author) , Tibiletti, Maria Grazia (Author) , Cavestro, Giulia Martina (Author) , Lindblom, Annika (Author) , Valle, Adriana Della (Author) , Lopez-Kostner, Francisco (Author) , Alvarez, Karin (Author) , Gluck, Nathan (Author) , Katz, Lior (Author) , Heinimann, Karl (Author) , Vaccaro, Carlos A. (Author) , Nakken, Sigve (Author) , Hovig, Eivind (Author) , Green, Kate (Author) , Lalloo, Fiona (Author) , Hill, James (Author) , Vasen, Hans F. A. (Author) , Perne, Claudia (Author) , Büttner, Reinhard (Author) , Görgens, Heike (Author) , Holinski-Feder, Elke (Author) , Morak, Monika (Author) , Holzapfel, Stefanie (Author) , Hüneburg, Robert (Author) , Knebel Doeberitz, Magnus von (Author) , Loeffler, Markus (Author) , Rahner, Nils (Author) , Weitz, Jürgen (Author) , Steinke-Lange, Verena (Author) , Schmiegel, Wolff (Author) , Vangala, Deepak (Author) , Crosbie, Emma J. (Author) , Pineda, Marta (Author) , Navarro, Matilde (Author) , Brunet, Joan (Author) , Moreira, Leticia (Author) , Sánchez, Ariadna (Author) , Serra-Burriel, Miquel (Author) , Mints, Miriam (Author) , Kariv, Revital (Author) , Rosner, Guy (Author) , Piñero, Tamara Alejandra (Author) , Pavicic, Walter Hernán (Author) , Kalfayan, Pablo (Author) , Broeke, Sanne W. ten (Author) , Mecklin, Jukka-Pekka (Author) , Pylvänäinen, Kirsi (Author) , Renkonen-Sinisalo, Laura (Author) , Lepistö, Anna (Author) , Peltomäki, Päivi (Author) , Hopper, John L. (Author) , Win, Aung Ko (Author) , Buchanan, Daniel D. (Author) , Lindor, Noralane M. (Author) , Gallinger, Steven (Author) , Marchand, Loïc Le (Author) , Newcomb, Polly A. (Author) , Figueiredo, Jane C. (Author) , Thibodeau, Stephen N. (Author) , Therkildsen, Christina (Author) , Hansen, Thomas V. O. (Author) , Lindberg, Lars (Author) , Rødland, Einar Andreas (Author) , Neffa, Florencia (Author) , Esperon, Patricia (Author) , Tjandra, Douglas (Author) , Möslein, Gabriela (Author) , Seppälä, Toni T. (Author) , Møller, Pål (Author)
Format: Article (Journal)
Language:English
Published: 28 June 2021
In: Journal of Clinical Medicine
Year: 2021, Volume: 10, Issue: 13, Pages: 1-12
ISSN:2077-0383
DOI:10.3390/jcm10132856
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/jcm10132856
Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/2077-0383/10/13/2856
Get full text
Author Notes: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 and Pål Møller

MARC

LEADER 00000caa a2200000 c 4500
001 1771818220
003 DE-627
005 20230427160049.0
007 cr uuu---uuuuu
008 210927s2021 xx |||||o 00| ||eng c
024 7 |a 10.3390/jcm10132856  |2 doi 
035 |a (DE-627)1771818220 
035 |a (DE-599)KXP1771818220 
035 |a (OCoLC)1341421533 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Dominguez-Valentin, Mev  |e VerfasserIn  |0 (DE-588)1199455474  |0 (DE-627)1681776278  |4 aut 
245 1 0 |a No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2  |b a prospective Lynch Syndrome Database study  |c 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 and Pål Møller 
264 1 |c 28 June 2021 
300 |a 12 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 27.09.2021 
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 MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) 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 path MLH1 and path_MSH2. 
650 4 |a <i>MLH1</i> 
650 4 |a <i>MSH2</i> 
650 4 |a aberrant splicing 
650 4 |a cancer incidence 
650 4 |a Lynch syndrome 
650 4 |a missense 
650 4 |a penetrance 
650 4 |a truncating 
700 1 |a Plazzer, John-Paul  |e VerfasserIn  |4 aut 
700 1 |a Sampson, Julian R.  |e VerfasserIn  |4 aut 
700 1 |a Engel, Christoph  |e VerfasserIn  |4 aut 
700 1 |a Aretz, Stefan  |e VerfasserIn  |4 aut 
700 1 |a Jenkins, Mark A.  |e VerfasserIn  |4 aut 
700 1 |a Sunde, Lone  |e VerfasserIn  |4 aut 
700 1 |a Bernstein, Inge  |e VerfasserIn  |4 aut 
700 1 |a Capella, Gabriel  |e VerfasserIn  |4 aut 
700 1 |a Balaguer, Francesc  |e VerfasserIn  |4 aut 
700 1 |a Macrae, Finlay  |e VerfasserIn  |4 aut 
700 1 |a Winship, Ingrid M.  |e VerfasserIn  |4 aut 
700 1 |a Thomas, Huw  |e VerfasserIn  |4 aut 
700 1 |a Evans, Dafydd Gareth  |e VerfasserIn  |4 aut 
700 1 |a Burn, John  |e VerfasserIn  |4 aut 
700 1 |a Greenblatt, Marc  |e VerfasserIn  |4 aut 
700 1 |a de Vos tot Nederveen Cappel, Wouter H.  |e VerfasserIn  |4 aut 
700 1 |a Sijmons, Rolf H.  |e VerfasserIn  |4 aut 
700 1 |a Nielsen, Maartje  |e VerfasserIn  |4 aut 
700 1 |a Bertario, Lucio  |e VerfasserIn  |4 aut 
700 1 |a Bonanni, Bernardo  |e VerfasserIn  |4 aut 
700 1 |a Tibiletti, Maria Grazia  |e VerfasserIn  |4 aut 
700 1 |a Cavestro, Giulia Martina  |e VerfasserIn  |4 aut 
700 1 |a Lindblom, Annika  |e VerfasserIn  |4 aut 
700 1 |a Valle, Adriana Della  |e VerfasserIn  |4 aut 
700 1 |a Lopez-Kostner, Francisco  |e VerfasserIn  |4 aut 
700 1 |a Alvarez, Karin  |e VerfasserIn  |4 aut 
700 1 |a Gluck, Nathan  |e VerfasserIn  |4 aut 
700 1 |a Katz, Lior  |e VerfasserIn  |4 aut 
700 1 |a Heinimann, Karl  |e VerfasserIn  |4 aut 
700 1 |a Vaccaro, Carlos A.  |e VerfasserIn  |4 aut 
700 1 |a Nakken, Sigve  |e VerfasserIn  |4 aut 
700 1 |a Hovig, Eivind  |e VerfasserIn  |4 aut 
700 1 |a Green, Kate  |e VerfasserIn  |4 aut 
700 1 |a Lalloo, Fiona  |e VerfasserIn  |4 aut 
700 1 |a Hill, James  |e VerfasserIn  |4 aut 
700 1 |a Vasen, Hans F. A.  |e VerfasserIn  |4 aut 
700 1 |a Perne, Claudia  |e VerfasserIn  |4 aut 
700 1 |a Büttner, Reinhard  |e VerfasserIn  |4 aut 
700 1 |a Görgens, Heike  |e VerfasserIn  |4 aut 
700 1 |a Holinski-Feder, Elke  |e VerfasserIn  |4 aut 
700 1 |a Morak, Monika  |e VerfasserIn  |4 aut 
700 1 |a Holzapfel, Stefanie  |e VerfasserIn  |4 aut 
700 1 |a Hüneburg, Robert  |e VerfasserIn  |4 aut 
700 1 |a Knebel Doeberitz, Magnus von  |e VerfasserIn  |0 (DE-588)1022165291  |0 (DE-627)71693289X  |0 (DE-576)364934239  |4 aut 
700 1 |a Loeffler, Markus  |e VerfasserIn  |4 aut 
700 1 |a Rahner, Nils  |e VerfasserIn  |4 aut 
700 1 |a Weitz, Jürgen  |e VerfasserIn  |4 aut 
700 1 |a Steinke-Lange, Verena  |e VerfasserIn  |4 aut 
700 1 |a Schmiegel, Wolff  |e VerfasserIn  |4 aut 
700 1 |a Vangala, Deepak  |e VerfasserIn  |4 aut 
700 1 |a Crosbie, Emma J.  |e VerfasserIn  |4 aut 
700 1 |a Pineda, Marta  |e VerfasserIn  |4 aut 
700 1 |a Navarro, Matilde  |e VerfasserIn  |4 aut 
700 1 |a Brunet, Joan  |e VerfasserIn  |4 aut 
700 1 |a Moreira, Leticia  |e VerfasserIn  |4 aut 
700 1 |a Sánchez, Ariadna  |e VerfasserIn  |4 aut 
700 1 |a Serra-Burriel, Miquel  |e VerfasserIn  |4 aut 
700 1 |a Mints, Miriam  |e VerfasserIn  |4 aut 
700 1 |a Kariv, Revital  |e VerfasserIn  |4 aut 
700 1 |a Rosner, Guy  |e VerfasserIn  |4 aut 
700 1 |a Piñero, Tamara Alejandra  |e VerfasserIn  |4 aut 
700 1 |a Pavicic, Walter Hernán  |e VerfasserIn  |4 aut 
700 1 |a Kalfayan, Pablo  |e VerfasserIn  |4 aut 
700 1 |a Broeke, Sanne W. ten  |e VerfasserIn  |4 aut 
700 1 |a Mecklin, Jukka-Pekka  |e VerfasserIn  |4 aut 
700 1 |a Pylvänäinen, Kirsi  |e VerfasserIn  |4 aut 
700 1 |a Renkonen-Sinisalo, Laura  |e VerfasserIn  |4 aut 
700 1 |a Lepistö, Anna  |e VerfasserIn  |4 aut 
700 1 |a Peltomäki, Päivi  |e VerfasserIn  |4 aut 
700 1 |a Hopper, John L.  |e VerfasserIn  |4 aut 
700 1 |a Win, Aung Ko  |e VerfasserIn  |4 aut 
700 1 |a Buchanan, Daniel D.  |e VerfasserIn  |4 aut 
700 1 |a Lindor, Noralane M.  |e VerfasserIn  |4 aut 
700 1 |a Gallinger, Steven  |e VerfasserIn  |4 aut 
700 1 |a Marchand, Loïc Le  |e VerfasserIn  |4 aut 
700 1 |a Newcomb, Polly A.  |e VerfasserIn  |4 aut 
700 1 |a Figueiredo, Jane C.  |e VerfasserIn  |4 aut 
700 1 |a Thibodeau, Stephen N.  |e VerfasserIn  |4 aut 
700 1 |a Therkildsen, Christina  |e VerfasserIn  |4 aut 
700 1 |a Hansen, Thomas V. O.  |e VerfasserIn  |4 aut 
700 1 |a Lindberg, Lars  |e VerfasserIn  |4 aut 
700 1 |a Rødland, Einar Andreas  |e VerfasserIn  |4 aut 
700 1 |a Neffa, Florencia  |e VerfasserIn  |4 aut 
700 1 |a Esperon, Patricia  |e VerfasserIn  |4 aut 
700 1 |a Tjandra, Douglas  |e VerfasserIn  |4 aut 
700 1 |a Möslein, Gabriela  |e VerfasserIn  |4 aut 
700 1 |a Seppälä, Toni T.  |e VerfasserIn  |4 aut 
700 1 |a Møller, Pål  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t Journal of Clinical Medicine  |d Basel : MDPI, 2012  |g 10(2021), 13, Artikel-ID 2856, Seite 1-12  |h Online-Ressource  |w (DE-627)718632478  |w (DE-600)2662592-1  |w (DE-576)365782718  |x 2077-0383  |7 nnas  |a No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2 a prospective Lynch Syndrome Database study 
773 1 8 |g volume:10  |g year:2021  |g number:13  |g elocationid:2856  |g pages:1-12  |g extent:12  |a No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2 a prospective Lynch Syndrome Database study 
856 4 0 |u https://doi.org/10.3390/jcm10132856  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
856 4 0 |u https://www.mdpi.com/2077-0383/10/13/2856  |x Verlag  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20210927 
993 |a Article 
994 |a 2021 
998 |g 1022165291  |a Knebel Doeberitz, Magnus von  |m 1022165291:Knebel Doeberitz, Magnus von  |d 910000  |d 912000  |d 50000  |e 910000PK1022165291  |e 912000PK1022165291  |e 50000PK1022165291  |k 0/910000/  |k 1/910000/912000/  |k 0/50000/  |p 45 
999 |a KXP-PPN1771818220  |e 3981407024 
BIB |a Y 
SER |a journal 
JSO |a {"person":[{"roleDisplay":"VerfasserIn","display":"Dominguez-Valentin, Mev","role":"aut","family":"Dominguez-Valentin","given":"Mev"},{"family":"Plazzer","given":"John-Paul","display":"Plazzer, John-Paul","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Sampson, Julian R.","roleDisplay":"VerfasserIn","role":"aut","family":"Sampson","given":"Julian R."},{"role":"aut","roleDisplay":"VerfasserIn","display":"Engel, Christoph","given":"Christoph","family":"Engel"},{"role":"aut","display":"Aretz, Stefan","roleDisplay":"VerfasserIn","given":"Stefan","family":"Aretz"},{"roleDisplay":"VerfasserIn","display":"Jenkins, Mark A.","role":"aut","family":"Jenkins","given":"Mark A."},{"role":"aut","roleDisplay":"VerfasserIn","display":"Sunde, Lone","given":"Lone","family":"Sunde"},{"family":"Bernstein","given":"Inge","roleDisplay":"VerfasserIn","display":"Bernstein, Inge","role":"aut"},{"given":"Gabriel","family":"Capella","role":"aut","roleDisplay":"VerfasserIn","display":"Capella, Gabriel"},{"family":"Balaguer","given":"Francesc","roleDisplay":"VerfasserIn","display":"Balaguer, Francesc","role":"aut"},{"given":"Finlay","family":"Macrae","role":"aut","roleDisplay":"VerfasserIn","display":"Macrae, Finlay"},{"roleDisplay":"VerfasserIn","display":"Winship, Ingrid M.","role":"aut","family":"Winship","given":"Ingrid M."},{"family":"Thomas","given":"Huw","roleDisplay":"VerfasserIn","display":"Thomas, Huw","role":"aut"},{"family":"Evans","given":"Dafydd Gareth","display":"Evans, Dafydd Gareth","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Burn","given":"John","roleDisplay":"VerfasserIn","display":"Burn, John","role":"aut"},{"given":"Marc","family":"Greenblatt","role":"aut","display":"Greenblatt, Marc","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","display":"de Vos tot Nederveen Cappel, Wouter H.","role":"aut","family":"de Vos tot Nederveen Cappel","given":"Wouter H."},{"role":"aut","roleDisplay":"VerfasserIn","display":"Sijmons, Rolf H.","given":"Rolf H.","family":"Sijmons"},{"role":"aut","display":"Nielsen, Maartje","roleDisplay":"VerfasserIn","given":"Maartje","family":"Nielsen"},{"display":"Bertario, Lucio","roleDisplay":"VerfasserIn","role":"aut","family":"Bertario","given":"Lucio"},{"role":"aut","display":"Bonanni, Bernardo","roleDisplay":"VerfasserIn","given":"Bernardo","family":"Bonanni"},{"display":"Tibiletti, Maria Grazia","roleDisplay":"VerfasserIn","role":"aut","family":"Tibiletti","given":"Maria Grazia"},{"family":"Cavestro","given":"Giulia Martina","display":"Cavestro, Giulia Martina","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Annika","family":"Lindblom","role":"aut","roleDisplay":"VerfasserIn","display":"Lindblom, Annika"},{"role":"aut","display":"Valle, Adriana Della","roleDisplay":"VerfasserIn","given":"Adriana Della","family":"Valle"},{"family":"Lopez-Kostner","given":"Francisco","roleDisplay":"VerfasserIn","display":"Lopez-Kostner, Francisco","role":"aut"},{"given":"Karin","family":"Alvarez","role":"aut","roleDisplay":"VerfasserIn","display":"Alvarez, Karin"},{"display":"Gluck, Nathan","roleDisplay":"VerfasserIn","role":"aut","family":"Gluck","given":"Nathan"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Katz, Lior","given":"Lior","family":"Katz"},{"family":"Heinimann","given":"Karl","display":"Heinimann, Karl","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Carlos A.","family":"Vaccaro","role":"aut","display":"Vaccaro, Carlos A.","roleDisplay":"VerfasserIn"},{"family":"Nakken","given":"Sigve","roleDisplay":"VerfasserIn","display":"Nakken, Sigve","role":"aut"},{"given":"Eivind","family":"Hovig","role":"aut","display":"Hovig, Eivind","roleDisplay":"VerfasserIn"},{"given":"Kate","family":"Green","role":"aut","roleDisplay":"VerfasserIn","display":"Green, Kate"},{"given":"Fiona","family":"Lalloo","role":"aut","display":"Lalloo, Fiona","roleDisplay":"VerfasserIn"},{"family":"Hill","given":"James","roleDisplay":"VerfasserIn","display":"Hill, James","role":"aut"},{"role":"aut","display":"Vasen, Hans F. A.","roleDisplay":"VerfasserIn","given":"Hans F. A.","family":"Vasen"},{"display":"Perne, Claudia","roleDisplay":"VerfasserIn","role":"aut","family":"Perne","given":"Claudia"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Büttner, Reinhard","given":"Reinhard","family":"Büttner"},{"role":"aut","display":"Görgens, Heike","roleDisplay":"VerfasserIn","given":"Heike","family":"Görgens"},{"display":"Holinski-Feder, Elke","roleDisplay":"VerfasserIn","role":"aut","family":"Holinski-Feder","given":"Elke"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Morak, Monika","given":"Monika","family":"Morak"},{"given":"Stefanie","family":"Holzapfel","role":"aut","roleDisplay":"VerfasserIn","display":"Holzapfel, Stefanie"},{"given":"Robert","family":"Hüneburg","role":"aut","display":"Hüneburg, Robert","roleDisplay":"VerfasserIn"},{"display":"Knebel Doeberitz, Magnus von","roleDisplay":"VerfasserIn","role":"aut","family":"Knebel Doeberitz","given":"Magnus von"},{"given":"Markus","family":"Loeffler","role":"aut","display":"Loeffler, Markus","roleDisplay":"VerfasserIn"},{"display":"Rahner, Nils","roleDisplay":"VerfasserIn","role":"aut","family":"Rahner","given":"Nils"},{"family":"Weitz","given":"Jürgen","display":"Weitz, Jürgen","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Steinke-Lange","given":"Verena","display":"Steinke-Lange, Verena","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Schmiegel, Wolff","roleDisplay":"VerfasserIn","role":"aut","family":"Schmiegel","given":"Wolff"},{"role":"aut","display":"Vangala, Deepak","roleDisplay":"VerfasserIn","given":"Deepak","family":"Vangala"},{"roleDisplay":"VerfasserIn","display":"Crosbie, Emma J.","role":"aut","family":"Crosbie","given":"Emma J."},{"given":"Marta","family":"Pineda","role":"aut","roleDisplay":"VerfasserIn","display":"Pineda, Marta"},{"given":"Matilde","family":"Navarro","role":"aut","roleDisplay":"VerfasserIn","display":"Navarro, Matilde"},{"roleDisplay":"VerfasserIn","display":"Brunet, Joan","role":"aut","family":"Brunet","given":"Joan"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Moreira, Leticia","given":"Leticia","family":"Moreira"},{"family":"Sánchez","given":"Ariadna","display":"Sánchez, Ariadna","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Serra-Burriel, Miquel","given":"Miquel","family":"Serra-Burriel"},{"family":"Mints","given":"Miriam","display":"Mints, Miriam","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","display":"Kariv, Revital","role":"aut","family":"Kariv","given":"Revital"},{"role":"aut","display":"Rosner, Guy","roleDisplay":"VerfasserIn","given":"Guy","family":"Rosner"},{"family":"Piñero","given":"Tamara Alejandra","roleDisplay":"VerfasserIn","display":"Piñero, Tamara Alejandra","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Pavicic, Walter Hernán","given":"Walter Hernán","family":"Pavicic"},{"given":"Pablo","family":"Kalfayan","role":"aut","roleDisplay":"VerfasserIn","display":"Kalfayan, Pablo"},{"display":"Broeke, Sanne W. ten","roleDisplay":"VerfasserIn","role":"aut","family":"Broeke","given":"Sanne W. ten"},{"roleDisplay":"VerfasserIn","display":"Mecklin, Jukka-Pekka","role":"aut","family":"Mecklin","given":"Jukka-Pekka"},{"given":"Kirsi","family":"Pylvänäinen","role":"aut","roleDisplay":"VerfasserIn","display":"Pylvänäinen, Kirsi"},{"roleDisplay":"VerfasserIn","display":"Renkonen-Sinisalo, Laura","role":"aut","family":"Renkonen-Sinisalo","given":"Laura"},{"role":"aut","display":"Lepistö, Anna","roleDisplay":"VerfasserIn","given":"Anna","family":"Lepistö"},{"given":"Päivi","family":"Peltomäki","role":"aut","display":"Peltomäki, Päivi","roleDisplay":"VerfasserIn"},{"family":"Hopper","given":"John L.","roleDisplay":"VerfasserIn","display":"Hopper, John L.","role":"aut"},{"family":"Win","given":"Aung Ko","roleDisplay":"VerfasserIn","display":"Win, Aung Ko","role":"aut"},{"role":"aut","display":"Buchanan, Daniel D.","roleDisplay":"VerfasserIn","given":"Daniel D.","family":"Buchanan"},{"given":"Noralane M.","family":"Lindor","role":"aut","display":"Lindor, Noralane M.","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Gallinger, Steven","given":"Steven","family":"Gallinger"},{"family":"Marchand","given":"Loïc Le","roleDisplay":"VerfasserIn","display":"Marchand, Loïc Le","role":"aut"},{"roleDisplay":"VerfasserIn","display":"Newcomb, Polly A.","role":"aut","family":"Newcomb","given":"Polly A."},{"roleDisplay":"VerfasserIn","display":"Figueiredo, Jane C.","role":"aut","family":"Figueiredo","given":"Jane C."},{"role":"aut","display":"Thibodeau, Stephen N.","roleDisplay":"VerfasserIn","given":"Stephen N.","family":"Thibodeau"},{"role":"aut","display":"Therkildsen, Christina","roleDisplay":"VerfasserIn","given":"Christina","family":"Therkildsen"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Hansen, Thomas V. O.","given":"Thomas V. O.","family":"Hansen"},{"family":"Lindberg","given" 
JSO |a :"Lars","roleDisplay":"VerfasserIn","display":"Lindberg, Lars","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Rødland, Einar Andreas","given":"Einar Andreas","family":"Rødland"},{"given":"Florencia","family":"Neffa","role":"aut","display":"Neffa, Florencia","roleDisplay":"VerfasserIn"},{"given":"Patricia","family":"Esperon","role":"aut","display":"Esperon, Patricia","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","display":"Tjandra, Douglas","role":"aut","family":"Tjandra","given":"Douglas"},{"given":"Gabriela","family":"Möslein","role":"aut","display":"Möslein, Gabriela","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","display":"Seppälä, Toni T.","role":"aut","family":"Seppälä","given":"Toni T."},{"family":"Møller","given":"Pål","display":"Møller, Pål","roleDisplay":"VerfasserIn","role":"aut"}],"title":[{"title_sort":"No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2","title":"No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2","subtitle":"a prospective Lynch Syndrome Database study"}],"recId":"1771818220","language":["eng"],"note":["Gesehen am 27.09.2021"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"name":{"displayForm":["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 and Pål Møller"]},"id":{"doi":["10.3390/jcm10132856"],"eki":["1771818220"]},"origin":[{"dateIssuedDisp":"28 June 2021","dateIssuedKey":"2021"}],"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"id":{"zdb":["2662592-1"],"eki":["718632478"],"issn":["2077-0383"]},"origin":[{"publisherPlace":"Basel","dateIssuedKey":"2012","publisher":"MDPI","dateIssuedDisp":"2012-"}],"language":["eng"],"recId":"718632478","disp":"No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2 a prospective Lynch Syndrome Database studyJournal of Clinical Medicine","type":{"media":"Online-Ressource","bibl":"periodical"},"note":["Gesehen am 12.06.20"],"part":{"extent":"12","volume":"10","text":"10(2021), 13, Artikel-ID 2856, Seite 1-12","issue":"13","pages":"1-12","year":"2021"},"pubHistory":["1.2012 -"],"title":[{"title_sort":"Journal of Clinical Medicine","subtitle":"open access journal","title":"Journal of Clinical Medicine"}]}],"physDesc":[{"extent":"12 S."}]} 
SRT |a DOMINGUEZVNODIFFEREN2820 

Similar Items