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Whole‐genome methylation analysis of benign and malignant colorectal tumours

Autor: Beggs, AD, Jones, A, El-Bahwary, M, Abulafi, M, Hodgson, SV, Tomlinson, IPM

Publikováno v: The Journal of Pathology

Changes in DNA methylation, whether hypo- or hypermethylation, have been shown to be associated with the progression of colorectal cancer. Methylation changes substantially in the progression from normal mucosa to adenoma and to carcinoma. This pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d4412e069f4564828b476aca838d03
https://doi.org/10.1002/path.4132

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Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene?

Autor: Lipton, L, Thomas, HJ, Eeles, RA, Houlston, RS, Longmuir, M, Davison, R, Hodgson, SV, Murday, VA, Norbury, CG, Taylor, C, Tomlinson, IP

It is not uncommon for cancer geneticists to be referred families with apparently Mendelian co-inheritance of breast and bowel cancer. Such families present a particular problem as regards the intensity of their screening for these diseases and the u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::76c60d705b8e13531a738cefb8692b8b
https://ora.ox.ac.uk/objects/uuid:08f51d87-fc0a-456b-a6cb-6225218e5517

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Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

Autor: Peterlongo, P, Chang-Claude, J, Moysich, KB, Rudolph, A, Schmutzler, RK, Simard, J, Soucy, P, Eeles, RA, Easton, DF, Hamann, U, Wilkening, S, Chen, B, Rookus, MA, Schmidt, MK, Van Der Baan, FH, Spurdle, AB, Walker, LC, Lose, F, Maia, AT, Montagna, M, Matricardi, L, Lubinski, J, Jakubowska, A, Garcia, EBG, Olopade, OI, Nussbaum, RL, Nathanson, KL, Domchek, SM, Rebbeck, TR, Arun, BK, Karlan, BY, Orsulic, S, Lester, J, Chung, WK, Miron, A, Southey, MC, Goldgar, DE, Buys, SS, Janavicius, R, Dorfling, CM, Van Rensburg, EJ, Ding, YC, Neuhausen, SL, Hansen, TVO, Gerdes, AM, Ejlertsen, B, Jønson, L, Osorio, A, Martínez-Bouzas, C, Benitez, J, Conway, EE, Blazer, KR, Weitzel, JN, Manoukian, S, Peissel, B, Zaffaroni, D, Scuvera, G, Barile, M, Ficarazzi, F, Mariette, F, Fortuzzi, S, Viel, A, Giannini, G, Papi, L, Martayan, A, Tibiletti, MG, Radice, P, Vratimos, A, Fostira, F, Garber, JE, Donaldson, A, Brewer, C, Foo, C, Evans, DGR, Frost, D, Eccles, D, Brady, A, Cook, J, Tischkowitz, M, Adlard, J, Barwell, J, Walker, L, Izatt, L, Side, LE, Kennedy, MJ, Rogers, MT, Porteous, ME, Morrison, PJ, Platte, R, Davidson, R, Hodgson, SV

Publikováno v: Peterlongo, P; Chang-Claude, J; Moysich, KB; Rudolph, A; Schmutzler, RK; Simard, J; et al.(2015). Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 24(1), 308-316. doi: 10.1158/1055-9965.EPI-14-0532. UCLA: Retrieved from: http://www.escholarship.org/uc/item/27p0x5fv

© 2014 American Association for Cancer Research. Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::11babde7e287822770e7521287ca23d5
http://www.escholarship.org/uc/item/27p0x5fv

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Expression and DNA methylation of TNF, IFNG and FOXP3 in colorectal cancer and their prognostic significance

Autor: Ganapathi, SK, Beggs, AD, Hodgson, SV, Kumar, D

BACKGROUND: Colorectal cancer (CRC) progression is associated with suppression of host cell-mediated immunity and local immune escape mechanisms. Our aim was to assess the immune function in terms of expression of TNF, IFNG and FOXP3 in CRC. \ud \ud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2b1adfd1371fe7bcaf87a036fcb16a87
https://openaccess.sgul.ac.uk/id/eprint/107300/1/Expression_and_DNA_methylation_TNF_IFNG.pdf

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DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

Autor: Church, DN, Briggs, SE, Palles, C, Domingo, E, Kearsey, SJ, Grimes, JM, Gorman, M, Martin, L, Howarth, KM, Hodgson, SV, NSECG Collaborators, Kaur, K, Taylor, J, Tomlinson, IP

Accurate duplication of DNA prior to cell division is essential to suppress mutagenesis and tumour development. The high fidelity of eukaryotic DNA replication is due to a combination of accurate incorporation of nucleotides into the nascent DNA stra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::56548e31fec89fd7bfbc308c25eafc7a
https://openaccess.sgul.ac.uk/id/eprint/101814/1/supp_ddt131_ddt131supp.pdf

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Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics

Autor: Cornel, M.C., Evers-Kiebooms, G., Ayme, S., Braga, S., Bricarelli, F.D., Hodgson, SV, Kosztolany, G., Lubinski, J., Ozgüc, M., Patch, C., Sequeiros, J., Tranebjaerg, L., van Heyningen, V., Borry, P., Dierickx, K., Clarke, A.

Publikováno v: Cornel, M C, Evers-Kiebooms, G, Ayme, S, Braga, S, Bricarelli, F D, Hodgson, SV, Kosztolany, G, Lubinski, J, Ozgüc, M, Patch, C, Sequeiros, J, Tranebjaerg, L, van Heyningen, V, Borry, P, Dierickx, K & Clarke, A 2009, ' Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics. ', European Journal of Human Genetics, vol. 17, no. 6, pp. 720-721 . https://doi.org/10.1038/ejhg.2009.26
European Journal of Human Genetics, 17(6), 720-721. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1bded34e5c9e17e8f7536aa69f6bce
https://research.vumc.nl/en/publications/4608e3c8-82d8-43d2-a339-d02ec40e1155

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A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

Autor: Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Estelles A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J

Publikováno v: Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3b3afaa0499d1192f934ddb8a087a24f
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=5506

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Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

Autor: Tischkowitz, M, Ameziane, N, Waisfisz, Q, De Winter, JP, Harris, R, Taniguchi, T, D'Andrea, A, Hodgson, SV, Mathew, CG, Joenje, H

Publikováno v: British Journal of Haematology, 123(3), 469-471. Wiley-Blackwell
Tischkowitz, M, Ameziane, N, Waisfisz, Q, De Winter, JP, Harris, R, Taniguchi, T, D'Andrea, A, Hodgson, SV, Mathew, CG & Joenje, H 2003, ' Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia ', British Journal of Haematology, vol. 123, no. 3, pp. 469-471 . https://doi.org/10.1046/j.1365-2141.2003.04640.x

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9bee24f53f52079153a825723c92bd0d
https://research.vumc.nl/en/publications/11dae40b-711b-4bd9-9c22-140a6eb7ccf8

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