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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
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
Autor:
Janez Zgajnar, Jacques De Greve, Guido Goelen, Erik Teugels, Mateja Krajc, Srdjan Novaković, Nikola Besic, Marko Hočevar
Publikováno v:
BMC Medical Genetics, Vol 9, Iss 1, p 83 (2008)
Vrije Universiteit Brussel
BMC Medical Genetics
Vrije Universiteit Brussel
BMC Medical Genetics
Background Both recurrent and population specific mutations have been found in different areas of the world and more specifically in ethnically defined or isolated populations. The population of Slovenia has over several centuries undergone limited m
Autor:
Trainor Kj, Melody Hiew, Jane E. Visvader, Clara Gaff, R. J McKinlay Gardner, Michael Field, Geoffrey J. Lindeman, Glenice Cheetham, Graeme Suthers, Jennifer A. Leary, Judy Kirk
Publikováno v:
Breast Cancer Research
Background Germline mutations in the genes BRCA1 and BRCA2 account for only a proportion of hereditary breast cancer, suggesting that additional genes contribute to hereditary breast cancer. Recently a heterozygous variant in the ataxia–telangiecta
Autor:
Rishi Deka, David D. Stenehjem, Vanessa Stevens, Marisa B. Schauerhamer, Sudhir Unni, Ancilla W. Fernandes, Diana I. Brixner, Jerzy E. Tyczynski
Publikováno v:
Journal of Ovarian Research
Background Breast cancer associated (BRCA) genes are critical for DNA repair. Mutations in BRCA1 and BRCA2 (BRCAm) result in loss of these repair mechanisms and potential carcinogenesis. Germline BRCAm are common in ovarian carcinomas, particularly i
Autor:
Anthony Rhodes, Cheng Har Yip, Sarah Dean, Soo-Hwang Teo, Nur Aishah Taib, Norhashimah Hassan, Sze-Yee Phuah, Lai-Meng Looi
Publikováno v:
Breast Cancer Research : BCR
Introduction: Given that breast cancers in germline BRCA1 carriers are predominantly estrogen-negative and triplenegative, it has been suggested that women diagnosed with triple-negative breast cancer (TNBC) younger than 50 years should be offered BR
Autor:
Gillian Mitchell
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A1 (2012)
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice
The role of the familial cancer clinic (FCC) is to provide a cancer risk assessment and appropriate cancer risk management advice, but there are certain groups of patients for whom there are no standard risk management guidelines. One such group is w