Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation

Authors: Paula Rofes, Núria Dueñas, Jesús delValle, Matilde Navarro, Judith Balmaña, Teresa Ramón y Cajal, Noemí Tuset, Carmen Castillo, Sara González, Joan Brunet, Gabriel Capellá, Conxi Lázaro, Marta Pineda

Source: Cancer Medicine, Vol 13, Iss 7, Pp n/a-n/a (2024)

Subject Terms: clinical management, Lynch syndrome, Lynch‐like syndrome, mismatch repair genes, mismatch repair‐deficiency, tumor testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2045-7634

Access URL: https://doaj.org/article/89ec02fadf8b49ddb36b4954ab5c79ac

Wnt genes in colonic polyposis predisposition

Authors: Isabel Quintana, Mariona Terradas, Pilar Mur, Iris B.A.W. te Paske, Sophia Peters, Isabel Spier, Verena Steinke-Lange, Claudia Maestro, David Torrents, Montserrat Puiggròs, Romina Royo, Raul Tonda, Genís Parra, Davide Piscia, Sergi Beltrán, Matilde Navarro, Virginia Piñol, Joan Brunet, Noemi Gonzalez-Abuin, Gemma Aiza, Anna Sommer, Yasmijn van Herwaarden, Galuh Astuti, Elke Holinski-Feder, Nicoline Hoogerbrugge, Richarda M. de Voer, Stefan Aretz, Gabriel Capellá, Laura Valle

Source: Genes and Diseases, Vol 10, Iss 3, Pp 753-757 (2023)

Subject Terms: Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352304222003257; https://doaj.org/toc/2352-3042

Access URL: https://doaj.org/article/6d5ba9489029433d87b24a830388dc13

Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management

Authors: Beatriz Cirauqui, Teresa Morán, Anna Estival, Vanesa Quiroga, Olatz Etxaniz, Carmen Balana, Matilde Navarro, Salvador Villà, Rosa Ballester, Mireia Margelí

Source: Case Reports in Oncology, Vol 13, Iss 1, Pp 130-138 (2020)

Subject Terms: tp53, li-fraumeni syndrome, breast cancer, epidermal growth factor receptor-mutated adenocarcinoma, glioblastoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/505684; https://doaj.org/toc/1662-6575

Access URL: https://doaj.org/article/a438a6d18bdc4096aa4eea1349a0fbcd

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

Authors: Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay Macrae, Ingrid Winship, D. Gareth Evans, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Lindblom, John-Paul Plazzer, Douglas Tjandra, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Karina Rønlund, Randi Thyregaard Nielsen, Mette Yilmaz, Louise Laurberg Elvang, Lior Katz, Maartje Nielsen, Sanne W. ten Broeke, Sigve Nakken, Eivind Hovig, Lone Sunde, Matthias Kloor, Magnus v Knebel Doeberitz, Aysel Ahadova, Noralane Lindor, Verena Steinke-Lange, Elke Holinski-Feder, Jukka-Pekka Mecklin, Pål Møller

Source: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-6 (2019)

Subject Terms: Lynch syndrome, Survival, Colonoscopy, Surveillance, Cancer stage, Colon cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-019-0127-3; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/4ac58fe8db1a436aa483dbd310b61d26

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Authors: Toni T. Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D. Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup, Annika Lindblom, John-Paul Plazzer, Ingrid Winship, Douglas Tjandra, Lior H. Katz, Stefan Aretz, Robert Hüneburg, Stefanie Holzapfel, Karl Heinimann, Adriana Della Valle, Florencia Neffa, Nathan Gluck, Wouter H. de Vos tot Nederveen Cappel, Hans Vasen, Monika Morak, Verena Steinke-Lange, Christoph Engel, Nils Rahner, Wolff Schmiegel, Deepak Vangala, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Ignacio Blanco, Sanne ten Broeke, Maartje Nielsen, Ken Ljungmann, Sigve Nakken, Noralane Lindor, Ian Frayling, Eivind Hovig, Lone Sunde, Matthias Kloor, Jukka-Pekka Mecklin, Mette Kalager, Pål Møller

Source: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-8 (2019)

Subject Terms: Mismatch repair, Microsatellite instability, Lynch syndrome, Hereditary cancer, Colorectal cancer, Hereditary nonpolyposis colorectal cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-019-0106-8; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/5e7cff12646841c9a57d26447ff46ded

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Authors: Pilar Mur, Richarda M. De Voer, Rubén Olivera-Salguero, Sandra Rodríguez-Perales, Tirso Pons, Fernando Setién, Gemma Aiza, Rafael Valdés-Mas, Angelo Bertini, Marta Pineda, Lilian Vreede, Matilde Navarro, Silvia Iglesias, Sara González, Joan Brunet, Alfonso Valencia, Manel Esteller, Conxi Lázaro, Geert J. P. L. Kops, Miguel Urioste, Xose S. Puente, Gabriel Capellá, Laura Valle

Source: Molecular Cancer, Vol 17, Iss 1, Pp 1-6 (2018)

Subject Terms: Colorectal cancer predisposition, Hereditary colorectal cancer, High-penetrance genes, Variegated aneuploidy, Mechanism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12943-018-0762-8; https://doaj.org/toc/1476-4598

Access URL: https://doaj.org/article/ac7a108e73bd4dcd8e288ed0828cb856

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

Authors: Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H. de Vos tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M. Frayling, John-Paul Plazzer, Julian R. Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller, in collaboration with The Mallorca Group

Source: Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-10 (2017)

Subject Terms: Lynch syndrome, Hereditary non-polyposis colorectal cancer, Colorectal cancer, Microsatellite instability, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-017-0078-5; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/fa96c2aaea2f442f83f380ff0ada1046

Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer.

Authors: Nuria Seguí, Elisabet Guinó, Marta Pineda, Matilde Navarro, Fernando Bellido, Conxi Lázaro, Ignacio Blanco, Victor Moreno, Gabriel Capellá, Laura Valle

Source: PLoS ONE, Vol 9, Iss 2, p e86063 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24498269/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a8515c67e76b44bb83aa678677b58009

Impaired Urine Dilution Capability in HIV Stable Patients

Authors: Waldo H. Belloso, Mariana de Paz Sierra, Matilde Navarro, Marisa L. Sanchez, Ariel G. Perelsztein, Carlos G. Musso

Source: International Journal of Nephrology, Vol 2014 (2014)

Subject Terms: Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: https://doaj.org/toc/2090-214X; https://doaj.org/toc/2090-2158

Access URL: https://doaj.org/article/f4163d9526b443bb8947de0839884605

Telomere length and genetic anticipation in Lynch syndrome.

Authors: Nuria Seguí, Marta Pineda, Elisabet Guinó, Ester Borràs, Matilde Navarro, Fernando Bellido, Victor Moreno, Conxi Lázaro, Ignacio Blanco, Gabriel Capellá, Laura Valle

Source: PLoS ONE, Vol 8, Iss 4, p e61286 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23637804/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a0a18a6df08e4e15a259effde6bf383e

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UFT-induced haemolytic anaemia.

Authors: Saavedra, Amado J. Zurita, Garcia, Matilde Navarro, Español, Ignacio, Ortega, Adela Fernández

Source: Cancer Chemotherapy & Pharmacology; Mar2001, Vol. 47 Issue 3, p280-281, 2p

Subject Terms: HEMOLYTIC anemia, CANCER patients, CANCER treatment, HEMOLYSIS & hemolysins, ANTINEOPLASTIC agents, COLON cancer

Mutations in TP53 are a prognostic factor in colorectal hepatic metastases undergoing surgical resection.

Authors: David G. Molleví, Teresa Serrano, Mireia M. Ginestà, Joan Valls, Jaume Torras, Matilde Navarro, Emilio Ramos, Josep R. Germà, Eduardo Jaurrieta, Víctor Moreno, Joan Figueras, Gabriel Capellà, Alberto Villanueva

Source: Carcinogenesis; Jun2007, Vol. 28 Issue 6, p1241-1241, 1p

Subject Terms: LIVER metastasis, ONCOLOGIC surgery, DRUG therapy, MEDICAL research