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001-es BibID:	BIBFORM056494
Első szerző:	Tanyi Miklós (sebész)
Cím:	MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations / M. Tanyi, J. Olasz, J. L. Tanyi, L. Tóth, P. Antal-Szalmás, Z. Ress, T. Bubán, K. Palatka, C. András, H. Urbancsek, Z. Garami, O. Csuka, L. Damjanovich
Dátum:	2014
Megjegyzések:	Hereditary Non-Polyposis Colorectal Cancer is an inherited disease with deleterious germline mutations in the DNA mismatch repair genes causing the development of colon cancer and other malignancies. This is the first study in Hungary screening the population of our colorectal cancer patients in order to identify the prevalence of the disease. METHODS: In families who met the Modified Amsterdam and Bethesda Criteria the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Those cases which showed high microsatellite instability underwent DNA sequencing and multiple ligation dependent probe amplification. RESULTS: Of the 1576 patients with colorectal cancer underwent screening for the modified Amsterdam and Bethesda criteria, 69 (4.4%) and 166 (10.5%) fulfilled the criteria respectively. 15 patients (31%) of the Amsterdam positive group and 19 patients from the Bethesda positive (18.1%) were MSI-H. There were 8 pathogenic mutations identified in 9 families (60%) in the Amsterdam positive group. 5 mutations were found in 5 families (26%) in the Bethesda positive group. 12 pathogenic mutations were identified, two of these are newly identified, and being published first in this work. These two new mutations were located on MLH1 (g.31276_35231del) and MSH2 (c.969_970delTC) genes. CONCLUSION: The prevalence of the mutations in the MLH1 and MSH2 genes was almost equal in our Hungarian colorectal cancer patients. One mutation in the MLH1 gene (c.143A > C; p.Q48P) was identified in three different families. Whether this mutation is the most frequent in the Hungarian population is still unidentified and warrant further investigation.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	European Journal of Surgical Oncology . - 40 : 11 (2014), p. 1445-1452. -
További szerzők:	Olasz J. (Budapest) Tanyi János L. Tóth László (1971-) (patológus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Ress Zsuzsa (1976-) (belgyógyász) Bubán Tamás (1967-) (belgyógyász, gasztroenterológus) Palatka Károly (1961-) (belgyógyász, gasztroenterológus) András Csilla (1961-) (onkológus szakorvos) Urbancsek Hilda (1966-) Garami Zoltán (1963-) (orvos) Csuka Orsolya Damjanovich László (1960-) (általános sebész)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM030852
Első szerző:	Tanyi Miklós (sebész)
Cím:	A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas / M. Tanyi, J. Olasz, G. Lukács, J. L. Tanyi, L. Tóth, P. Antal-Szalmás, Z. Ress, T. Bubán, C. András, L. Damjanovich
Dátum:	2009
ISSN:	0748-7983
Megjegyzések:	Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) is the most frequent inherited disease which can lead to the development of tumors in the colon and other locations. Its genetic basis is related to the germline mutation of the Mismatch Repair (MMR) genes.Muir-Torre syndrome is considered one of the subtypes of this disease, in which the HNPCC tumor spectrum is frequently associated with sebaceous carcinoma of the skin or keratoacanthoma.A 57 years old male patient is presented with a mucinous carcinoma of the caecum and an adenocarcinoma of the pancreas head. A malignant sebaceous carcinoma was removed from his left neck area. His family history was significant for two cases of colon carcinoma,two cases of stomach cancer and a case of metacron endometrial and skin tumor as well. Both the colon carcinoma and the skin tumor proved to be microsatellite unstable. An Arg>Pro switch missense mutation was found in codon 265 of the hMLH1 gene. This errorwas found in 4 other members of his family.The detected genetic alteration was considered pathogenic and was not published yet in English literature. The significance of this particular case is the rare tumor association in a patient with Muir-Torre syndrome (MTS). In cases of sebaceous skin lesions, evaluation of family history is of utmost importance in the early detection of HNPCC and in the follow up care of family members with the particular mutation.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Hereditary nonpolyposis colorectal cancer Muir-Torre syndrome Mutation hMLH1 hMSH2
Megjelenés:	EJSO-European Journal of Surgical Oncology 35 : 10 (2009), p. 1128-1130. -
További szerzők:	Olasz J. (Budapest) Lukács Géza (1941-) (sebész) Tanyi János L. Tóth László (1971-) (patológus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Ress Zsuzsa (1976-) (belgyógyász) Bubán Tamás (1967-) (belgyógyász, gasztroenterológus) András Csilla (1961-) (onkológus szakorvos) Damjanovich László (1960-) (általános sebész)
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001-es BibID:	BIBFORM008198
Első szerző:	Tanyi Miklós (sebész)
Cím:	Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma : presentation of 4 families with proven mutation / Tanyi M., Olasz J., Kámory E., Csuka O., Tanyi J. L., Ress Z., Damjanovich L.
Dátum:	2008
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	EJSO-European Journal of Surgical Oncology. - 34 : 12 (2008), p. 1322-1327. -
További szerzők:	Olasz Judit Kámory Enikő Csuka Orsolya Tanyi János L. Ress Zsuzsa (1976-) (belgyógyász) Damjanovich László (1960-) (általános sebész)
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001-es BibID:	BIBFORM003475
Első szerző:	Tanyi Miklós (sebész)
Cím:	Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer / Miklós Tanyi, Judith Olasz, Géza Lukács, Orsolya Csuka, László Tóth, Zoltán Szentirmay, Zsuzsa Ress, Zsolt Barta, János L. Tanyi, László Damjanovich
Dátum:	2006
Megjegyzések:	To screen a suspected Hungarian HNPCC family to find specific mutations and to evaluate their effect on the presentation of the disease. METHODS: The family was identified by applying the Amsterdam and Bethesda Criteria. Immunohistochemistry was performed, and DNA samples isolated from tumor tissue were evaluated for microsatellite instability. The identification of possible mutations was carried out by sequencing the hMLH1 and hMSH2 genes. RESULTS: Two different mutations were observed in the index patient and in his family members. The first mutation was located in exon 7, codon 422 of hMSH2, and caused a change from Glu to STOP codon. No other report of such a mutation has been published, as far as we could find in the international databases. The second mutation was found in exon 3 codon 127 of the hMSH2 gene, resulting in Asp-Ser substitution. The second mutation was already published, as a non-pathogenic allelic variation. CONCLUSION: The pedigree analysis suggested that the newly detected nonsense mutation in exon 7 of the hMSH2 gene might be responsible for the development of colon cancers. In family members where the exon 7 mutation is not coupled with this missense mutation, colon cancer appears after the age of 40. The association of these two mutations seems to decrease the age of manifestation of the disease into the early thirties.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban bethesda criteria mutation hMLH1 hMSH2 hereditary nonpolyposis colon cancer
Megjelenés:	World Journal of Gastroenterology. - 12 : 8 (2006), p. 1192-1197. -
További szerzők:	Olasz Judith Lukács Géza (1941-) (sebész) Csuka Orsolya Tóth László (1971-) (patológus) Szentirmay Zoltán Ress Zsuzsa (1976-) (belgyógyász) Barta Zsolt (1964-) (belgyógyász, gasztroenterológus) Tanyi János L. Damjanovich László (1960-) (általános sebész)
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