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Page 1
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, 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, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Ryan N, 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, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: gonzalez ml. Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1. Genet Med. 2021. PMID: 33257847 Free PMC article.
Lynch syndrome in South America: past, present and future.
Vaccaro CA, Sarroca C, Rossi B, Lopez-Kostner F, Dominguez M, Calo NC, Cutait R, Valle AD, Nuñez L, Neffa F, Alvarez K, Gonzalez ML, Kalfayan P, Lynch HT, Church J. Vaccaro CA, et al. Among authors: gonzalez ml. Fam Cancer. 2016 Jul;15(3):437-45. doi: 10.1007/s10689-016-9903-7. Fam Cancer. 2016. PMID: 27007491
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.
Dominguez-Valentin M, Wernhoff P, Cajal AR, Kalfayan PG, Piñero TA, Gonzalez ML, Ferro A, Sammartino I, Causada Calo NS, Vaccaro CA. Dominguez-Valentin M, et al. Among authors: gonzalez ml. Front Oncol. 2016 Aug 24;6:189. doi: 10.3389/fonc.2016.00189. eCollection 2016. Front Oncol. 2016. PMID: 27606285 Free PMC article. No abstract available.
Evaluation of MLH1 variants of unclear significance.
Köger N, Paulsen L, López-Kostner F, Della Valle A, Vaccaro CA, Palmero EI, Alvarez K, Sarroca C, Neffa F, Kalfayan PG, Gonzalez ML, Rossi BM, Reis RM, Brieger A, Zeuzem S, Hinrichsen I, Dominguez-Valentin M, Plotz G. Köger N, et al. Among authors: gonzalez ml. Genes Chromosomes Cancer. 2018 Jul;57(7):350-358. doi: 10.1002/gcc.22536. Epub 2018 Apr 30. Genes Chromosomes Cancer. 2018. PMID: 29520894
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.
Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D, Cardoso FC, Torrezan GT, Junior SA, Pimenta CAM, da Cruz Formiga MN, Santos E, Sá CU, Oliveira EP, Fujita R, Spirandelli E, Jimenez G, Guindalini RSC, de Azevedo RGMV, Bueno LSM, Dos Santos Nogueira ST, Loarte MT, Padron J, Del Carmen Castro-Mujica M, Del Monte JS, Caballero C, Peña CMM, Pinto J, Barletta-Carrillo C, Melva GA, Piñero T, Beltran PM, Ashton-Prolla P, Rodriguez Y, Quispe R, Rossi NT, Martin C, Chialina S, Kalfayan PG, Bazo-Alvarez JC, Cañete AR, Dominguez-Barrera C, Nuñez L, Da Silva SD, Balavarca Y, Wernhoff P, Plazzer JP, Møller P, Hovig E, Dominguez-Valentin M; GETH. Vaccaro CA, et al. Among authors: gonzalez ml. Int J Cancer. 2019 Jul 15;145(2):318-326. doi: 10.1002/ijc.31920. Epub 2018 Dec 5. Int J Cancer. 2019. PMID: 30303536 Free PMC article. Review.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: gonzalez ml. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337882 Free PMC article.
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
Della Valle A, Rossi BM, Palmero EI, Antelo M, Vaccaro CA, López-Kostner F, Alvarez K, Cruz-Correa M, Bruno LI, Forones NM, Mindiola JAR, Buleje J, Spirandelli F, Bohorquez M, Cock-Rada AM, Sullcahuaman Y, Nascimento I, Abe-Sandes K, Lino-Silva LS, Petracchi F, Mampel A, Rodriguez Y, Rossi NT, Yañez CB, Rubio C, Petta-Lajus TB, Silveira-Lucas EL, Jiménez G, Peña CMM, Reyes-Silva C, Ayala-Madrigal ML, Del Monte JS, Quispe R, Recalde A, Neffa F, Sarroca C, de Campos Reis Galvão H, Golubicki M, Piñero TA, Kalfayan PG, Ferro FA, Gonzalez ML, Pérez-Mayoral J, Pimenta CAM, Uyaban SPB, Protzel A, Chávez G, Dueñas M, Gil MLG, Spirandelli E, Chialina S, Echeverry M, Fuenmayor LJP, Torres M, Palma TFB, Héritas NC, Martin C, Suárez A, Vallejo M, Rafaela de Souza Timoteo A, Ayala CA, Jaramillo-Koupermann G, Hernández-Sandoval JA, Guerrero AH, Dominguez-Barrera C, Bazo-Alvarez JC, Wernhoff P, Plazzer JP, Balavarca Y, Hovig E, Møller P, Dominguez-Valentin M; collaboration with LA-GETH. Della Valle A, et al. Among authors: gonzalez ml. Eur J Cancer. 2019 Sep;119:112-121. doi: 10.1016/j.ejca.2019.07.017. Epub 2019 Aug 20. Eur J Cancer. 2019. PMID: 31442815
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: gonzalez ml. Genet Med. 2020 Sep;22(9):1569. doi: 10.1038/s41436-020-0892-4. Genet Med. 2020. PMID: 32690931 Free PMC article.
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Seppälä TT, 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, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Møller P, Crosbie EJ. Dominguez-Valentin M, et al. Among authors: gonzalez ml. J Clin Med. 2020 Jul 18;9(7):2290. doi: 10.3390/jcm9072290. J Clin Med. 2020. PMID: 32708519 Free PMC article.
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