A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.
作者： Florentia Fostira , Nikolaos Tsoukalas , Irene Konstantopoulou , Vassilios Georgoulias , Charalambos Christophyllakis
DOI: 10.1155/2014/875029
关键词:
摘要: This report highlights the necessity of genetic testing, at least for BRCA1 mutations, young females diagnosed with triple negative breast cancer, even in absence or limited family history. A 34-year-old female a locally advanced, tumour, which perforated skin, is described. At time diagnosis, patient had already multiple lung metastases and although chemotherapy was started immediately, she died rapid systemic disease progression. The found to carry p.E1060X mutation, located on exon 11 gene. high penetrance gene not represented patient's family, since mutation paternally inherited. It evident that belonging small families, along paternal inheritance pathogenic BRCA mutations predispose most cases will probably be genetically tested only after being cancer.
hindawi.com参考文章(10)
J. Melia, C. Moynihan, S. Peock, G. Rennert, F. Schröder, P. Sibley, M. Suri, P. Wilson, Y. J. Bignon, S. Strom, M. Tischkowitz, A. Liljegren, D. Ilencikova, A. Abele, K. Kyriacou, C. van Asperen, L. Kiemeney, D. F. Easton, Rosalind A. Eeles, , Anita V. Mitra, Elizabeth K. Bancroft, Yolanda Barbachano, Elizabeth C. Page, C. S. Foster, C. Jameson, G. Mitchell, G. J. Lindeman, A. Stapleton, G. Suthers, D. G. Evans, D. Cruger, I. Blanco, C. Mercer, J. Kirk, L. Maehle, S. Hodgson, L. Walker, L. Izatt, F. Douglas, K. Tucker, H. Dorkins, V. Clowes, A. Male, A. Donaldson, C. Brewer, R. Doherty, B. Bulman, P. J. Osther, M. Salinas, D. Eccles, K. Axcrona, I. Jobson, B. Newcombe, C. Cybulski, W. S. Rubinstein, S. Buys, S. Townshend, E. Friedman, S. Domchek, T. Ramon y Cajal, A. Spigelman, S. H. Teo, N. Nicolai, N. Aaronson, A. Ardern-Jones, C. Bangma, D. Dearnaley, J. Eyfjord, A. Falconer, H. Grönberg, F. Hamdy, O. Johannsson, V. Khoo, Z. Kote-Jarai, H. Lilja, J. Lubinski, Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study BJU International. ,vol. 107, pp. 28- 39 ,(2011) , 10.1111/J.1464-410X.2010.09648.X
Florentia Fostira, Marianthi Tsitlaidou, Christos Papadimitriou, Maroulio Pertesi, Eleni Timotheadou, Alexandra V. Stavropoulou, Stavros Glentis, Evangelos Bournakis, Mattheos Bobos, Dimitrios Pectasides, Pavlos Papakostas, George Pentheroudakis, Helen Gogas, Pantelis Skarlos, Epaminontas Samantas, Dimitrios Bafaloukos, Paris A. Kosmidis, Angelos Koutras, Drakoulis Yannoukakos, Irene Konstantopoulou, George Fountzilas, Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study Breast Cancer Research and Treatment. ,vol. 134, pp. 353- 362 ,(2012) , 10.1007/S10549-012-2021-9
Alexander Liede, Beth Y. Karlan, Steven A. Narod, Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature Journal of Clinical Oncology. ,vol. 22, pp. 735- 742 ,(2004) , 10.1200/JCO.2004.05.055
Mandell JB King MC1, Marks JH, New York Breast Cancer Study Group., None, Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. ,vol. 302, pp. 643- 646 ,(2003) , 10.1126/SCIENCE.1088759
Deborah Ford, DF Easton, M Stratton, S Narod, D Goldgar, P Devilee, DT Bishop, B Weber, G Lenoir, J Chang-Claude, H Sobol, M Dawn Teare, J Struewing, A Arason, S Scherneck, J Peto, TR Rebbeck, P Tonin, S Neuhausen, R Barkardottir, J Eyfjord, H Lynch, BAJ Ponder, SA Gayther, JM Birch, A Lindblom, D Stoppa-Lyonnet, Y Bignon, A Borg, U Hamann, N Haites, RJ Scott, CM, and Maugard, H Vasen, S Seitz, LA Cannon-Albright, A Schofield, M Zelada-Hedman, Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families American Journal of Human Genetics. ,vol. 62, pp. 676- 689 ,(1998) , 10.1086/301749
Y. C. Tai, S. Domchek, G. Parmigiani, S. Chen, Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers Journal of the National Cancer Institute. ,vol. 99, pp. 1811- 1814 ,(2007) , 10.1093/JNCI/DJM203
Elena Castro, Chee Goh, David Olmos, Ed Saunders, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Nadiya Mahmud, Tokhir Dadaev, Koveela Govindasami, Michelle Guy, Emma Sawyer, Rosemary Wilkinson, Audrey Ardern-Jones, Steve Ellis, Debra Frost, Susan Peock, D Gareth Evans, Marc Tischkowitz, Trevor Cole, Rosemarie Davidson, Diana Eccles, Carole Brewer, Fiona Douglas, Mary E Porteous, Alan Donaldson, Huw Dorkins, Louise Izatt, Jackie Cook, Shirley Hodgson, M John Kennedy, Lucy E Side, Jacqueline Eason, Alex Murray, Antonis C Antoniou, Douglas F Easton, Zsofia Kote-Jarai, Rosalind Eeles, None, Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer Journal of Clinical Oncology. ,vol. 31, pp. 1748- 1757 ,(2013) , 10.1200/JCO.2012.43.1882
A. Antoniou, P.D.P. Pharoah, S. Narod, H.A. Risch, J.E. Eyfjord, J.L. Hopper, N. Loman, H. Olsson, O. Johannsson, Å. Borg, B. Pasini, P. Radice, S. Manoukian, D.M. Eccles, N. Tang, E. Olah, H. Anton-Culver, E. Warner, J. Lubinski, J. Gronwald, B. Gorski, H. Tulinius, S. Thorlacius, H. Eerola, H. Nevanlinna, K. Syrjäkoski, O.-P. Kallioniemi, D. Thompson, C. Evans, J. Peto, F. Lalloo, D.G. Evans, D.F. Easton, Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies American Journal of Human Genetics. ,vol. 72, pp. 1117- 1130 ,(2003) , 10.1086/375033
N Senst, M Llacuachaqui, J Lubinski, H Lynch, S Armel, S Neuhausen, P Ghadirian, P Sun, SA Narod, , Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation Clinical Genetics. ,vol. 84, pp. 43- 46 ,(2013) , 10.1111/CGE.12037
D. G. Evans, M. Ahmed, S. Bayliss, E. Howard, F. Lalloo, A. Wallace, BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries Journal of Medical Genetics. ,vol. 47, pp. 561- 566 ,(2010) , 10.1136/JMG.2009.075770