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Autor:
Sylwia Kopijasz, Corran Roberts, Victoria Y Strauss, Shibani Nicum, Andrew R Clamp, Marcia Hall, Richard D. Kennedy, Ana Montes, Charlie Gourley, Jacinta Abraham, Michael R.L. Stratford, Susana Banerjee, Lisa K. Folkes
Publikováno v:
Roberts, C, Strauss, V Y, Kopijasz, S, Gourley, C, Hall, M, Montes, A, Abraham, J, Clamp, A, Kennedy, R, Banerjee, S, Folkes, L K, Stratford, M & Nicum, S 2020, ' Results of a phase II clinical trial of 6-mercaptopurine (6MP) and methotrexate in patients with BRCA-defective tumours ', British Journal of Cancer, vol. 122, no. 4, pp. 483-490 . https://doi.org/10.1038/s41416-019-0674-4, https://doi.org/10.1038/s41416-019-0674-4
Roberts, C, Strauss, V Y, Kopijasz, S, Gourley, C, Hall, M, Montes, A, Abraham, J, Clamp, A, Kennedy, R, Banerjee, S, Folkes, L K, Stratford, M & Nicum, S 2020, ' Results of a phase II clinical trial of 6-mercaptopurine (6MP) and methotrexate in patients with BRCA-defective tumours ', British Journal of Cancer, vol. 122, no. 4, pp. 483-490 . https://doi.org/10.1038/s41416-019-0674-4
British Journal of Cancer
Roberts, C, Strauss, V Y, Kopijasz, S, Gourley, C, Hall, M, Montes, A, Abraham, J, Clamp, A, Kennedy, R, Banerjee, S, Folkes, L K, Stratford, M & Nicum, S 2020, ' Results of a phase II clinical trial of 6-mercaptopurine (6MP) and methotrexate in patients with BRCA-defective tumours ', British Journal of Cancer, vol. 122, no. 4, pp. 483-490 . https://doi.org/10.1038/s41416-019-0674-4
British Journal of Cancer
BackgroundTumour cells with BRCA1/2 gene mutations demonstrate increased sensitivity to platinum and poly (ADP-ribose) polymerase (PARP) inhibitors. 6-mercaptopurine (6MP) was found to selectively kill BRCA-defective cells in a xenograft model as eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b494bdec4a88dbce8776a6e9b65b9c
https://doi.org/10.1038/s41416-019-0674-4
https://doi.org/10.1038/s41416-019-0674-4
Autor:
Beverley S. Speight, Marc Tischkowitz
Publikováno v:
Journal of Genetic Counseling
Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b90b871eb5876d60696048fbb8078c6
https://www.repository.cam.ac.uk/handle/1810/267347
https://www.repository.cam.ac.uk/handle/1810/267347
Autor:
Jan Steffen, Michalina Dabrowska, Aneta Balabas, Magdalena Piatkowska, Dorota Nowakowska, Izabela Brozek, Anna Niwińska, Magdalena Ratajska, Jadwiga Rachtan, Janusz Limon, Anna Kluska
Publikováno v:
Familial Cancer
It is estimated that about 5–10% of ovarian and 2–5% of all breast cancer patients are carriers of a germline BRCA1 or BRCA2 gene mutation. Most families with detected BRCA1 or BRCA2 gene mutation are qualified for molecular testing on the basis
Publikováno v:
Zeitschrift für Rheumatologie. 75(1):63-68
Zusammenfassung Das Risiko für gynäkologische Tumoren bei rheumatisch-entzündlichen Systemerkrankungen scheint nur in Bezug auf das Zervixkarzinom v. a. bei systemischem Lupus erythematodes erhöht zu sein. Studien weisen auf die Bedeutung des Imm
Autor:
Riikka Nurminen, Johanna Schleutker, Heli Nevanlinna, Liisa M. Pelttari, Lauri A. Aaltonen, Alexandra E. Gylfe
Publikováno v:
BMC Cancer, Vol 12, Iss 1, p 552 (2012)
BMC Cancer
BMC Cancer
Background Rare, heterozygous germline mutations in the RAD51C gene have been found in breast and ovarian cancer families. In the Finnish population, we have identified two founder mutations in RAD51C that increase the risk of ovarian cancer but not
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia
Autor:
Marcia Llacuachaqui, Jeffrey N. Weitzel, Steven A. Narod, Garrett P. Larson, Juan David Figueroa, Gonzalo Vásquez Palacio, Robert Royer, Song Li, Julián Esteban Londoño Hernández, Jorge Madrid, Mauricio Lema
Publikováno v:
Hereditary Cancer in Clinical Practice
Background Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different foun
Publikováno v:
Breast Cancer Research
Introduction Mutations in BRCA1, BRCA2, ATM, TP53, CHK2 and PTEN account for many, but not all, multiple-case breast and ovarian cancer families. The histone acetyltransferase gene EP300 may function as a tumour suppressor gene because it is sometime
Autor:
Letitia D. Smith, Irene L. Andrulis, Ee Ming Wong, Andrew K. Godwin, Andrea Tesoriero, Esther M. John, Mary B. Daly, Mary Beth Terry, Ruby T. Senie, Stephen B. Fox, Melissa C. Southey, David E. Goldgar, Frances P. O'Malley, Graham G. Giles, Saundra S. Buys, Regina M. Santella, Hilmi Ozcelik, John L. Hopper, Anna Marie Mulligan, Susan J. Ramus
Publikováno v:
Breast Cancer Research : BCR
Introduction: Selecting women affected with breast cancer who are most likely to carry a germline mutation in BRCA1 and applying the most appropriate test methodology remains challenging for cancer genetics services. We sought to test the value of se
Autor:
Dagnija Kalniete, Jekaterina Zestkova, Arvids Irmejs, Janis Gardovskis, Karina Aksenoka, Andris Gardovskis, Dace Berzina, Miki Nakazawa-Miklasevica, Edvins Miklasevics
Publikováno v:
BMC Medical Genetics
Background The estimated ratio of hereditary breast/ovarian cancer (HBOC) based on family history is 1.5% in Latvia. This is significantly lower than the European average of 5–10%. Molecular markers like mutations and SNPs can help distinguish HBOC
Autor:
Janusz Menkiszak, Jerzy Jakubowicz, Zbigniew Kojs, Maria Świniarska, Jacek Gronwald, Anita Chudecka-Głaz, Aneta Cymbaluk-Płoska, Dorota Zielińska, Ryszard Bedner, Aleksander Celewicz, Paulina Tarnowska, Małgorzata Wężowska
Publikováno v:
Journal of Ovarian Research
Background There are no effective methods of diagnosis of early-stage ovarian cancer. Conservative care over patients at high risk of ovarian and breast cancers is ineffective. Prophylactic surgery is considered the best prophylaxis among BRCA1/BRCA2