The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.

作者: C. Villarreal-Garza , J. N. Weitzel , M. Llacuachaqui , E. Sifuentes , M. C. Magallanes-Hoyos

DOI: 10.1007/S10549-015-3312-8

关键词:

摘要: Various guidelines recommend that women with triple-negative breast cancer should be tested for BRCA1 mutations, but the prevalence of mutations may vary ethnic group and geographic region, optimal cutoff age testing has not been established. We estimated frequencies BRCA2 (BRCA) among 190 cancer, unselected family history, diagnosed at 50 or less a single hospital in Mexico City. Patients were screened 115 recurrent BRCA which have reported previously Hispanic origin, including common large rearrangement Mexican founder mutation (BRCA1 ex9-12del). A was detected 44 patients (23 %). Forty-three found one BRCA2. Seven different accounted 39 (89 % total mutations). The ex9-12del) 18 times 41 all detected. There is high young Mexico. Women BRCA1.

参考文章(48)
Cynthia Villarreal-Garza, Rosa María Alvarez-Gómez, Carlos Pérez-Plasencia, Luis A. Herrera, Josef Herzog, Danielle Castillo, Alejandro Mohar, Clementina Castro, Lenny N. Gallardo, Dolores Gallardo, Miguel Santibáñez, Kathleen R. Blazer, Jeffrey N. Weitzel, Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. ,vol. 121, pp. 372- 378 ,(2015) , 10.1002/CNCR.29058
Mauricio Tawil, Lilian Torregrosa, Ángela Umaña, Ignacio Briceño, Elías Quintero, Ute Hamman, José Joaquín Caicedo, José Fernando Robledo, Alejandro Orozco, Diana Torres, Estudio de factores genéticos para cáncer de mama en Colombia Universitas Médica. ,vol. 50, pp. 297- 301 ,(2009)
J. Abugattas, M. Llacuachaqui, Y. Sullcahuaman Allende, A. Arias Velásquez, R. Velarde, J. Cotrina, M. Garcés, M. León, G. Calderón, M. de la Cruz, P. Mora, R. Royer, J. Herzog, J.N. Weitzel, S.A. Narod, Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clinical Genetics. ,vol. 88, pp. 371- 375 ,(2015) , 10.1111/CGE.12505
Patricio Gonzalez-Hormazabal, Sara Gutierrez-Enriquez, Daniel Gaete, Jose M. Reyes, Octavio Peralta, Enrique Waugh, Fernando Gomez, Sonia Margarit, Teresa Bravo, Rafael Blanco, Orland Diez, Lilian Jara, Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families Breast Cancer Research and Treatment. ,vol. 126, pp. 705- 716 ,(2011) , 10.1007/S10549-010-1170-Y
Jeffrey N. Weitzel, Veronica I. Lagos, Josef S. Herzog, Thaddeus Judkins, Brant Hendrickson, Jason S. Ho, Charité N. Ricker, Katrina J. Lowstuter, Kathleen R. Blazer, Gail Tomlinson, Tom Scholl, Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families Cancer Epidemiology, Biomarkers & Prevention. ,vol. 16, pp. 1615- 1620 ,(2007) , 10.1158/1055-9965.EPI-07-0198
Jos� Rafael Blesa, Jos� Angel Garc�a, Enrique Ochoa, Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area. Human Mutation. ,vol. 15, pp. 381- 382 ,(2000) , 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU14>3.0.CO;2-H
Michael J. Hall, Julia E. Reid, Lynn A. Burbidge, Dmitry Pruss, Amie M. Deffenbaugh, Cynthia Frye, Richard J. Wenstrup, Brian E. Ward, Thomas A. Scholl, Walter W. Noll, BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer. ,vol. 115, pp. 2222- 2233 ,(2009) , 10.1002/CNCR.24200
L. Delgado, G. Fernández, G. Grotiuz, S. Cataldi, A. González, N. LLuveras, M. Heguaburu, R. Fresco, D. Lens, G. Sabini, I. M. Muse, BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Research and Treatment. ,vol. 128, pp. 211- 218 ,(2011) , 10.1007/S10549-010-1320-2
Ana Vega, Berta Campos, Brigitte Bressac-de-Paillerets, Patricia M. Bond, Nicolas Janin, Fiona S. Douglas, Montserrat Domènech, Manel Baena, Carles Pericay, Carmen Alonso, Angel Carracedo, Montserrat Baiget, Orland Diez, The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Human Mutation. ,vol. 17, pp. 520- 521 ,(2001) , 10.1002/HUMU.1136
GA Gutiérrez Espeleta, M Llacuachaqui, L García-Jiménez, M Aguilar Herrera, K Loáiciga Vega, A Ortiz, R Royer, S Li, SA Narod, BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica Clinical Genetics. ,vol. 82, pp. 484- 488 ,(2012) , 10.1111/J.1399-0004.2011.01774.X