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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:
David B. Young, Amanda B. Spurdle, Graham J. Mann, Gulietta M. Pupo, Georgia Chenevix-Trench, Felicity Lose, Carolyn J. Brown, Kum Kum Khanna, Jeremy Arnold
Publikováno v:
Breast cancer research : BCR
Introduction BRCA1 is involved in numerous essential processes in the cell, and the effects of BRCA1 dysfunction in breast cancer carcinogenesis are well described. Many of the breast cancer susceptibility genes such as BRCA2, p53, ATM, CHEK2, and BR
Autor:
Friedman, E, Kotsopoulos, J, Lubinski, J, Lynch, Ht, Ghadirian, P, Neuhausen, Sl, Isaacs, C, Weber, B, Foulkes, Wd, Moller, P, Rosen, B, Kim Sing, C, Gershoni Baruch, R, Ainsworth, P, Daly, M, Tung, N, Eisen, A, Olopade, Oi, Karlan, B, Saal, Hm, Garber, Je, Rennert, G, Gilchrist, D, Eng, C, Offit, K, Osborne, M, Sun, P, Narod, Sa, Mclennan, J, Fishman, D, Merajver, S, Mckinnon, W, Wood, M, Chudley, A, Warner, E, Weitzel, J, Evans, G, Lemire, E, Olsson, H, Meschino, W, Provencher, D, Mills, G, Pasche, B, Fallen, T, Pasini, Barbara, Bellati, C, Couch, F, Wagner, T, Kipper, L, Steele, P.
Publikováno v:
Breast Cancer Research
Introduction BRCA1 and BRCA2 mutation carriers are at increased risk for developing both breast and ovarian cancer. It has been suggested that carriers of BRCA1/2 mutations may also be at increased risk of having recurrent (three or more) miscarriage
Autor:
Orsola Anna Colantuoni, Laura Ottini, Angelo Raffaele Bianco, Cristina D'Amico, A. Contegiacomo, Maurizio Lalle, Sandro Carlini, Cristiana Noviello, Renato Mariani-Costantini, Fiorella Guadagni, Salvatore Lauro, Enrico Cortesi, Claudia Pizzi, Giuseppe Fornarini, Luigi Frati
Publikováno v:
Breast Cancer Research : BCR
Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to s
Autor:
Jan Lubinski, Claudine Isaacs, Barbara L. Weber, Steven A. Narod, Olufunmilayo I. Olopade, William D. Foulkes, Peter Ainsworth, Charmaine Kim-Sing, Henry T. Lynch, Joanne Kotsopoulos, Ping Sun, Andrea Eisen, Parviz Ghadirian
Publikováno v:
Breast Cancer Research
Background Several anthropometric measures have been found to be associated with the risk of breast cancer. Current weight, body mass index, and adult weight gain appear to be predictors of postmenopausal breast cancer. These factors have been associ
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:
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