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Page 1
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldberg Y, … See abstract for full author list ➔ Dominguez-Valentin M, et al. Among authors: pavicic w. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 Free PMC article.
LINE-1 hypomethylation in familial and sporadic cancer.
Pavicic W, Joensuu EI, Nieminen T, Peltomäki P. Pavicic W, et al. J Mol Med (Berl). 2012 Jul;90(7):827-35. doi: 10.1007/s00109-011-0854-z. Epub 2012 Jan 8. J Mol Med (Berl). 2012. PMID: 22228215 Free PMC article.
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Among authors: pavicic wh. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P. Seppälä TT, et al. Among authors: pavicic w. Eur J Cancer. 2021 May;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub 2021 Mar 17. Eur J Cancer. 2021. PMID: 33743481 Free PMC article.
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, 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, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sánchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Piñero TA, Pavicic WH, Kalfayan P, Broeke SWT, Mecklin JP, 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, Esperon P, Tjandra D, Möslein G, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: pavicic wh. J Clin Med. 2021 Jun 28;10(13):2856. doi: 10.3390/jcm10132856. J Clin Med. 2021. PMID: 34203177 Free PMC article.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zaránd A, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepisto A, Peltomäki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, de Vargas AF, Latchford A, Gerdes AM, Backman AS, Guillén-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubiński J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary… See abstract for full author list ➔ Møller P, et al. Among authors: pavicic wh. Hered Cancer Clin Pract. 2022 Oct 1;20(1):36. doi: 10.1186/s13053-022-00241-1. Hered Cancer Clin Pract. 2022. PMID: 36182917 Free PMC article.
22 results