Results 21 to 30 of about 10,784 (208)

Syndrome in question [PDF]

Anais Brasileiros de Dermatologia, 2015
Muir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors.
Catharina Maria Freire de Lucena Pousa, Fernanda Guedes Lavorato, Fernanda Valente Rehfeldt, Danielle Mann, Maria de Fátima Gonçalves Scotelaro Alves   +4 more
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Identification of novel germline mutations in hereditary colorectal cancer patients and characterization of somatic alterations in their tumors [PDF]

, 2008
Colorectal cancer has been reported as the third leading cause of cancer related death in the world. About 5-10% of colorectal cancers are due to an inherited predisposition.
Zhang, Jian
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Identification of novel genetic and prognostic markers in hereditary and sporadic cancer: "two sides of the same coin" [PDF]

, 2012
This thesis has focused on the discovery and characterization of novel diagnostic and prognostic markers in various cancer entities, with a special emphasis on colorectal cancer (CRC).
Piscuoglio, Salvatore
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Muir-Torre Syndrome: The Importance of a Detailed Family History

Case Reports in Ophthalmology, 2019
Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies.
Christopher K.H. Burris, Maria E. Rodriguez, Meisha L. Raven, Devasis N. Reddy, Yaohui G. Xu, Janey L. Wiggs, Heather D. Potter, Daniel M. Albert   +7 more
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A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer

Kaohsiung Journal of Medical Sciences, 2011
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease predisposing to the development of colorectal cancers and several other malignancies (endometrium, ovaries, stomach, small bowel, hepatobiliary, and urinary ...
Wen-Chau Chen, Shao-Chieh Lin, Jenq-Chang Lee, 陳文超, 林劭潔, 李政昌   +5 more
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Differential diagnosis of small bowel occlusions

Clinical Management Issues, 2009
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI).
Paolo Ghiringhelli
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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts [PDF]

, 2013
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
Sampson, JR, Capella, G., Moeslein, Gabriela, Moslein, G., Vasen, Hans F. A., Sijmons RH, Renkonen-Sinisalo, L, Genuardi, M, Engel, C., Leon, M., Møller P, Gopie, JP, Bertario, Lucio, Alonso A, Heinimann, K, Genuardi, M., Tejpar, S, Burn J, Rahner, N, Engel, Christoph, PONZ DE LEON, Maurizio, Alonso, A, Wijnen, J.T., Burn, John, Lindblom, Annika, Heinimann, Karl, Lindblom, A, Tejpar, Sabine, Vasen HF, Bertario L, Leon, M.P. de, Thomas HJ, Maurizio Genuardi., Nagengast, FM, Gopie JP, Myrhoj, T., Bernstein I, Hes, Frederik J., Stormorken, Astrid, Myrhoj, Torben, Aktan-Collan, Katja, Wijnen JT, Alonso, A., Tejpar, S., Hodgson, SV, Nagengast, Fokko M., Aretz, S., Vasen, H.F., Myrhoj T, Stormorken A, Moller, P., Engel C, Järvinen HJ, Sampson, Julian R., Karagiannis, JA, Mecklin, JP, Lalloo, F., Engel, C, Capella, G, Bernstein, I., Hodgson SV, Lindblom A, Bertario, L, Jaervinen, Heikki Juhani, Gopie, Jessica P., Karagiannis, John A., Burn, J, Karagiannis JA, Frayling, I.M., Sijmons, Rolf H., Sampson JR, Rahner, N., Ponz de Leon, M, Blanco, I, Aktan Collan K, Møller, P, Hes FJ, Aktan-Collan, K, Blanco, I., Genuardi, Maurizio, Aretz, Stefan, Vasen, HF, Blanco, Ignacio, Nagengast, F.M., Thomas, Huw J. W., Stormorken, A, Lindblom, A., Gopie, J.P., Bertario, L., Moller, Pal, Thomas, H.J.W., Lalloo, Fiona, Rahner N, Renkonen-Sinisalo, Laura, Wijnen, Juul T., Alonso, Angel, Sampson, Julian Roy, Bernstein, Inge, Sijmons, RH, Capella, Gabriel, Mallorca Grp, Jarvinen, H.J., Myrhoj, T, Hes, FJ, Aretz S, Järvinen, HJ, Wijnen, JT, Mallorca group, Vasen, H.F.A., Parc Y, Karagiannis, J.A., Bernstein, I, Hodgson, Shirley V., Rahner, Nils, et al., Parc, Y., Sampson, J.R., Aretz, S, Thomas, H.J., Frayling, Ian M., Capella G, Nagengast FM, Colas, C., Renkonen-Sinisalo, L., Tejpar S, Frayling, IM, Hes, F.J., Renkonen Sinisalo L, Frayling IM, Parc, Y, Mecklin, Jukka-Pekka, Möslein G., de Leon, Maurizio Ponz, Lalloo F, Blanco I, Möslein, G, Hodgson, S.V., Lalloo, F, Heinimann, K., Mecklin, J.P., Colas, C, Thomas, HJ, Colas, Chrystelle, Frayling, Ian Martin, Parc, Yann, Heinimann K, Burn, J., Sijmons, R.H., Stormorken, A., Genuardi M, de Leon, M.P., Colas C, Mecklin JP, Aktan-Collan, K.   +153 more
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HISTORY OF HEREDITARY NONPOLYPOSIS COLORECTAL CANCER OR “LYNCH SYNDROME”

Revista Médica Clínica Las Condes, 2017
Hereditary Nonpolyposis Colorectal Cancer (HNPCC or “Lynch syndrome”), involving pathogenic variants in the Mismatch Repair (MMR) genes, is the most common inherited condition that predisposed to colorectal adenomas and colorectal cancer. In this chapter
Patrick M Lynch, JD, MD
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Historical review of Lynch syndrome

Journal of Coloproctology, 2013
Lynch syndrome was formerly known as Hereditary Nonpolyposis Colorectal Cancer. Currently, these two nomenclatures each have their unique definitions and are no longer used interchangeably.
Andrew I. Wolf, Adam H. Buchanan, Linda M. Farkas   +2 more
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Case Report: Multiple colorectal cancers in a patient with Ulcerative colitis and Lynch syndrome: Is there a role for prophylactic colectomy? A short report and review of literature

Frontiers in Oncology, 2022
It is a known fact that Lynch syndrome (LS) and Ulcerative colitis (UC) are individually associated with increased risk of colorectal cancer. While there is no conclusive evidence to demonstrate a cumulative risk when these two conditions coexist ...
Adewale Adeoba Ayeni, Peter Waterland, Matthew Evans, Shika Singhal, Rajan Kumar Patel, Akinfemi Akingboye   +5 more
doaj   +1 more source