No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2: A Prospective Lynch Syndrome Database Study

M 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; Gareth Evans; John Burn; Marc Greenblatt; 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; CA 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 Crosbie; Marta Pineda; Matilde Navarro; Joan Brunet; Leticia Moreira; Ariadna Sanchez; Miquel Serra-Burriel; Miriam Mints; Revital Kariv; Guy Rosner; Tamara Alejandra Piñero; Walter Pavicic; Pablo Kalfayan; S.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; Loic 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; Douglas Tjandra; Gabriela Möslein; Toni Seppälä; Pål Møller

doi:10.3390/jcm10132856

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2: A Prospective Lynch Syndrome Database Study

M 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
, Gareth Evans
, John Burn
, Marc Greenblatt
, 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, CA 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 Crosbie, Marta Pineda, Matilde Navarro, Joan Brunet, Leticia Moreira, Ariadna Sanchez, Miquel Serra-Burriel, Miriam Mints, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, Walter Pavicic, Pablo Kalfayan, S.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, Loic 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, Douglas Tjandra, Gabriela Möslein, Toni Seppälä, Pål Møller

Research output: Contribution to journal › Article › Scientific › peer-review

17 Citations (Scopus)

Original language	English
Article number	2856
Journal	Journal of Clinical Medicine
Volume	10
Issue number	13
DOIs	https://doi.org/10.3390/jcm10132856
Publication status	Published - Jun 2021
Publication type	A1 Journal article-refereed

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10.3390/jcm10132856Licence: CC BY

Cite this

Dominguez-Valentin, M., Plazzer, J.-P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, G., Burn, J., Greenblatt, M., Cappel, D. V. T. N., Sijmons, R. H., Nielsen, M., ... Møller, P. (2021). No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2: A Prospective Lynch Syndrome Database Study. Journal of Clinical Medicine, 10(13), Article 2856. https://doi.org/10.3390/jcm10132856

@article{23eeeeaee8524c779956f945432e73b7,

title = "No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2: A Prospective Lynch Syndrome Database Study",

author = "M Dominguez-Valentin and John-Paul Plazzer and Sampson, \{Julian R.\} and Christoph Engel and Stefan Aretz and Jenkins, \{Mark A.\} and Lone Sunde and Inge Bernstein and Gabriel Capella and Francesc Balaguer and Finlay Macrae and Winship, \{Ingrid M.\} and Huw Thomas and Gareth Evans and John Burn and Marc Greenblatt and Cappel, \{de Vos tot Nederveen\} and Sijmons, \{Rolf H.\} and Maartje Nielsen and Lucio Bertario and Bernardo Bonanni and Tibiletti, \{Maria Grazia\} and Cavestro, \{Giulia Martina\} and Annika Lindblom and Valle, \{Adriana Della\} and Francisco Lopez-Kostner and Karin Alvarez and Nathan Gluck and Lior Katz and Karl Heinimann and CA Vaccaro and Sigve Nakken and Eivind Hovig and Kate Green and Fiona Lalloo and James Hill and Vasen, \{Hans F. A.\} and Claudia Perne and Reinhard B{\"u}ttner and Heike G{\"o}rgens and Elke Holinski-Feder and Monika Morak and Stefanie Holzapfel and Robert H{\"u}neburg and Doeberitz, \{Magnus von Knebel\} and Markus Loeffler and Nils Rahner and J{\"u}rgen Weitz and Verena Steinke-Lange and Wolff Schmiegel and Deepak Vangala and Emma Crosbie and Marta Pineda and Matilde Navarro and Joan Brunet and Leticia Moreira and Ariadna Sanchez and Miquel Serra-Burriel and Miriam Mints and Revital Kariv and Guy Rosner and Pi{\~n}ero, \{Tamara Alejandra\} and Walter Pavicic and Pablo Kalfayan and Broeke, \{S.W. ten\} and Jukka-Pekka Mecklin and Kirsi Pylv{\"a}n{\"a}inen and Laura Renkonen-Sinisalo and Anna Lepist{\"o} and P{\"a}ivi Peltom{\"a}ki and Hopper, \{John L.\} and Win, \{Aung Ko\} and Buchanan, \{Daniel D\} and Lindor, \{Noralane M.\} and Steven Gallinger and Marchand, \{Loic Le\} and Newcomb, \{Polly A.\} and Figueiredo, \{Jane C.\} and Thibodeau, \{Stephen N.\} and Christina Therkildsen and Hansen, \{Thomas V. O.\} and Lars Lindberg and R{\o}dland, \{Einar Andreas\} and Florencia Neffa and Patricia and Douglas Tjandra and Gabriela M{\"o}slein and Toni Sepp{\"a}l{\"a} and P{\aa}l M{\o}ller",

year = "2021",

month = jun,

doi = "10.3390/jcm10132856",

language = "English",

volume = "10",

journal = "Journal of Clinical Medicine",

issn = "2077-0383",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "13",

}

Dominguez-Valentin, M, Plazzer, J-P, Sampson, JR, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, IM, Thomas, H, Evans, G, Burn, J, Greenblatt, M, Cappel, DVTN, Sijmons, RH, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Lindblom, A, Valle, AD, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, HFA, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, MVK, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sanchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, TA, Pavicic, W, Kalfayan, P, Broeke, SWT, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, JL, Win, AK, Buchanan, DD, Lindor, NM, Gallinger, S, Marchand, LL, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Hansen, TVO, Lindberg, L, Rødland, EA, Neffa, F, Patricia, Tjandra, D, Möslein, G, Seppälä, T & Møller, P 2021, 'No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2: A Prospective Lynch Syndrome Database Study', Journal of Clinical Medicine, vol. 10, no. 13, 2856. https://doi.org/10.3390/jcm10132856

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2: A Prospective Lynch Syndrome Database Study. / Dominguez-Valentin, M; Plazzer, John-Paul; Sampson, Julian R. et al.
In: Journal of Clinical Medicine, Vol. 10, No. 13, 2856, 06.2021.

Research output: Contribution to journal › Article › Scientific › peer-review

TY - JOUR

T1 - No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1and MSH2

T2 - A Prospective Lynch Syndrome Database Study

AU - Dominguez-Valentin, M

AU - Plazzer, John-Paul

AU - Sampson, Julian R.

AU - Engel, Christoph

AU - Aretz, Stefan

AU - Jenkins, Mark A.

AU - Sunde, Lone

AU - Bernstein, Inge

AU - Capella, Gabriel

AU - Balaguer, Francesc

AU - Macrae, Finlay

AU - Winship, Ingrid M.

AU - Thomas, Huw

AU - Evans, Gareth

AU - Burn, John

AU - Greenblatt, Marc

AU - Cappel, de Vos tot Nederveen

AU - Sijmons, Rolf H.

AU - Nielsen, Maartje

AU - Bertario, Lucio

AU - Bonanni, Bernardo

AU - Tibiletti, Maria Grazia

AU - Cavestro, Giulia Martina

AU - Lindblom, Annika

AU - Valle, Adriana Della

AU - Lopez-Kostner, Francisco

AU - Alvarez, Karin

AU - Gluck, Nathan

AU - Katz, Lior

AU - Heinimann, Karl

AU - Vaccaro, CA

AU - Nakken, Sigve

AU - Hovig, Eivind

AU - Green, Kate

AU - Lalloo, Fiona

AU - Hill, James

AU - Vasen, Hans F. A.

AU - Perne, Claudia

AU - Büttner, Reinhard

AU - Görgens, Heike

AU - Holinski-Feder, Elke

AU - Morak, Monika

AU - Holzapfel, Stefanie

AU - Hüneburg, Robert

AU - Doeberitz, Magnus von Knebel

AU - Loeffler, Markus

AU - Rahner, Nils

AU - Weitz, Jürgen

AU - Steinke-Lange, Verena

AU - Schmiegel, Wolff

AU - Vangala, Deepak

AU - Crosbie, Emma

AU - Pineda, Marta

AU - Navarro, Matilde

AU - Brunet, Joan

AU - Moreira, Leticia

AU - Sanchez, Ariadna

AU - Serra-Burriel, Miquel

AU - Mints, Miriam

AU - Kariv, Revital

AU - Rosner, Guy

AU - Piñero, Tamara Alejandra

AU - Pavicic, Walter

AU - Kalfayan, Pablo

AU - Broeke, S.W. ten

AU - Mecklin, Jukka-Pekka

AU - Pylvänäinen, Kirsi

AU - Renkonen-Sinisalo, Laura

AU - Lepistö, Anna

AU - Peltomäki, Päivi

AU - Hopper, John L.

AU - Win, Aung Ko

AU - Buchanan, Daniel D

AU - Lindor, Noralane M.

AU - Gallinger, Steven

AU - Marchand, Loic Le

AU - Newcomb, Polly A.

AU - Figueiredo, Jane C.

AU - Thibodeau, Stephen N.

AU - Therkildsen, Christina

AU - Hansen, Thomas V. O.

AU - Lindberg, Lars

AU - Rødland, Einar Andreas

AU - Neffa, Florencia

AU - Patricia, null

AU - Tjandra, Douglas

AU - Möslein, Gabriela

AU - Seppälä, Toni

AU - Møller, Pål

PY - 2021/6

Y1 - 2021/6

U2 - 10.3390/jcm10132856

DO - 10.3390/jcm10132856

M3 - Article

SN - 2077-0383

VL - 10

JO - Journal of Clinical Medicine

JF - Journal of Clinical Medicine

IS - 13

M1 - 2856

ER -