2017, Número 2
<< Anterior Siguiente >>
Rev Invest Clin 2017; 69 (2)
Genetic Cancer Risk Assessment for Breast Cancer in Latin America
Chavarri-Guerra Y, Reilly BK, Nelson WJ
Idioma: Ingles.
Referencias bibliográficas: 83
Paginas: 94-102
Archivo PDF: 86.08 Kb.
RESUMEN
Sin resumen.
REFERENCIAS (EN ESTE ARTÍCULO)
International Agency for Research on Cancer. Globocan 2012: Estimated Cancer Incidence, Mortality and Prevalence Worldwide in 2012. World Health Organization (WHO); 2012 (July 18, 2014); Available at: http://globocan.iarc.fr/Pages/fact_ sheets_population.aspx.
Anderson BO, Cazap E, El Saghir NS, et al. Optimisation of breast cancer management in low-resource and middle-resource countries: executive summary of the Breast Health Global Initiative consensus, 2010. Lancet Oncol. 2011;12:387-98.
Goss PE, Lee BL, Badovinac-Crnjevic T, et al. Planning cancer control in Latin America and the Caribbean. Lancet Oncol. 2013; 14:391-436.
Villarreal-Garza C, Aguila C, Magallanes-Hoyos MC, et al. Breast cancer in young women in Latin America: an unmet, growing burden. Oncologist. 2013;18:1298-306.
Perou CM. Molecular stratification of triple-negative breast cancers. Oncologist. 2011;16:61-70.
Siegel RL, Miller KD, Jemal A. Cancer statistics, 2016. CA Cancer J Clin. 2016;66:7-30.
Strasser-Weippl K, Chavarri-Guerra Y, Villarreal-Garza C, et al. Progress and remaining challenges for cancer control in Latin America and the Caribbean. Lancet Oncol. 2015;16: 1405-38.
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676-89.
Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105:812-22.
Dutil J, Golubeva VA, Pacheco-Torres AL, Diaz-Zabala HJ, Matta JL, Monteiro AN. The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective. Breast Cancer Res Treat. 2015;154:441-53.
Weitzel J, Clague J, Ogaz R, et al., editors. Prevalence and ancestral origin of Hispanic BRCA mutations: Insights for ancestry informed genetic cancer risk assessment. ASCO Annual Meeting; 2011; Chicago, IL.
NCCN. NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 2.20172017. Available at: https://www. nccn.org/professionals/physician_gls/recently_updated.asp.
Tan DS, Mok TSK, Rebbeck TR. Cancer genomics: Diversity and disparity across ethnicity and geography. J Clin Oncol. 2016;34:91-101.
Adhikari K, Mendoza-Revilla J, Chacon-Duque JC, Fuentes-Guajardo M, Ruiz-Linares A. Admixture in Latin America. Curr Opin Genet Dev. 2016;41:106-14.
Ruiz-Linares A, Adhikari K, Acuna-Alonzo V, et al. Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals. PLoS Genet. 2014;10:e1004572.
Fejerman L, Chen GK, Eng C, et al. Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas. Hum Mol Genet. 2012;21:1907-17.
Narod S, Foulkes W. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 2004;4:665-76.
Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer among Ashkenazi women. Am J Hum Genet. 1997;60: 505-14.
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83:1301-8.
Donenberg T, Lunn J, Curling D, et al. A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat. 2011;125:591-6.
Trottier M, Lunn J, Butler R, et al. Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas. Clin Genet. 2016;89:328-31.
Gutierrez Espeleta GA, Llacuachaqui M, Garcia-Jimenez L, et al. BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica. Clin Genet. 2012;82:484-8.
Rodriguez RC, Esperon AA, Ropero R, et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba. Fam Cancer. 2008;7:275-9.
Dutil J, Colon-Colon JL, Matta JL, Sutphen R, Echenique M. Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico. Cancer Genet. 2012;205:242-8.
Delgado L, Fernandez G, Grotiuz G, et al. BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res Treat. 2011;128:211-8.
Santos C, Peixoto A, Rocha P, et al. Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin. Fam Cancer. 2009;8:203-8.
Vega A, Campos B, Bressac-De-Paillerets B, et al. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 2001;17:520-1.
Weitzel JN, Lagos VI, Herzog JS, et al. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2007;16:1615-20.
Torres D, Rashid MU, Gil F, et al. High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat. 2007;103:225-32.
Rodríguez AO, Llacuachaqui M, Pardo GG, et al. BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. Gynecol Oncol. 2012;124:236-43.
Machado PM, Brandao RD, Cavaco BM, et al. Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol. 2007;25:2027-34.
Ashton-Prolla P, Vargas FR. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genet Mol Biol. 2014;37:234-40.
Judkins T, Rosenthal E, Arnell C, et al. Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer. 2012;118: 5210-6.
Weitzel JN, Clague J, Martir-Negron A, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol. 2013;31:210-6.
Custodio G, Parise GA, Kiesel Filho N, et al. Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol. 2013;31:2619-26.
Garritano S, Gemignani F, Palmero EI, et al. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat. 2010;31:143-50.
Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497- 506.
Catucci I, Casadei S, Ding YC, et al. Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. Breast Cancer Res Treat. 2016;160:121-9.
Weitzel JN, Blazer KR, MacDonald DJ, Culver JO, Offit K. Genetics, genomics and cancer risk assessment: state of the art and future directions in the era of personalized medicine. CA Cancer J Clin. 2011;61:327-59.
Cruz-Correa M, Perez-Mayoral J, Dutil J, Echenique M, Mosquera R, Rivera-Roman K, et al. Clinical Cancer Genetics Disparities among Latinos. J Genet Couns. 2016. [Epub ahead of print].
Breastcancer.org. Genetic Testing Facilities and Cost. Ardmore, PA. Available at: http://www.breastcancer.org/symptoms/testing/ genetic/facility_cost. [Accessed January 10, 2017].
Margarit S. Cáncer Hereditario de Mama. Rev Chil Rad. 2008;14:135-41.
Villarreal-Garza C, Herrera LA, Herzog J, et al. Significant Clinical impact of recurrent BRCA1 and BRCA2 (BRCA) mutations in Mexico. Cancer Res. 2015;121:372-8.
Abugattas J, Llacuachaqui M, Allende YS, et al. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clin Genet. 2015;88:371-5.
Hernandez JE, Llacuachaqui M, Palacio G, et al. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellin, Colombia. Hered Cancer Clin Pract. 2014;12:11.
Villarreal-Garza C, Weitzel JN, Llacuachaqui M, et al. The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat. 2015;150:389-94.
Herzog J, Castillo D, Slavin T, et al., editors. Sequencing for All: An Economical Workflow for BRCA Genotyping of Breast and Ovarian Cancer in Underserved Women from Latin America ASHG 2016; The American Society of Human Genetics.
ESE INdC, G -, Orden Ly, COLCIENCIAS LyO, Departamento Administrativo de Ciencia TeI. Guía de práctica clínica (GPC) para la detección temprana, tratamiento integral, seguimiento y rehabilitación del cáncer de mama Sistema General de Seguridad Social en Salud – Colombia Guía Completa. 2013.
Para la prevención, diagnóstico, tratamiento, control y vigilancia epidemiológica del cáncer de mama, NORMA Oficial Mexicana. NOM-041-SSA2-2011.
Seuánez HN, Vargas FR, Moreira M, et al. Rede Nacional De Cancer Familial Manual Operacional. Rio de Janeiro. Instituto Nacional de Câncer - INCA, 2009.
Núñez LM, Pesce V, Viniegra M, Buffa R, Tabares G. Pautas para la Detección y Estudio de Casos con Alto Riesgode Cáncer de Mama Heredo-Familiar. In: Salud. NdCMd, editor. Argentina. 2014.
Margarit SB, Alvarado M, Alvarez K, Lay-Son G. Medical Genetics and Genetic Counseling in Chile. J Genet Couns. 2013;22:869-74.
Chavez T, Nehoray B, Obregon-Tito A, et al. Exploring the climate, barriers, and possible approaches to implementing genetic cancer risk assessment in Latin America: A roundtable discussion. Cancer Epidemiol Biomarkers Prev. 2015;24:A36.
Red Argentina de Cancer Familiar (RACAF). Reporte Anual. Buenos Aires - República Argentina: Instituto Nacional del Cáncer; 2015; Available at: http://www.msal.gov.ar/inc/recursos-decomunicacion/ primer-reporte-anual-de-la-red-argentina-decancer- familiar-racaf/.
Ashton-Prolla P, Seuanez HN. The Brazilian Hereditary Cancer Network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil. Genet Mol Biol. 2016;39:163-5.
Incan inagura clínica para detectar cáncer hereditario. Mexico City 2016. Available at: http://www.milenio.com/cultura/Incan_ inaugura_clinica-detectar_cancer_hereditario_0_689331091. html [Accessed 6 March 2017].
Investiga predisposición genética al cáncer de mama. Noticias del Tecnológico de Monterrey Monterrey, NL 2017. Available at: http://www.itesm.mx/wps/wcm/connect/snc/portal+informativo /por+campus/monterrey/academia/n552025 [Accessed 6 March 2017].
Aceves W. Investigadores del CUCS estudian predisposición genética en cáncer de mama. Guadalajara, Jal: Universidad de Guadalajara; 2015. Available at: http://www.udg.mx/es/noticia/ investigadores-del-cucs-estudian-predisposicion-geneticaen- cancer-de-mama [Accessed January 10, 2017].
Weitzel JN, Villarreal-Garza C, Blazer KR, et al., editors. Dissemination and implementation of genomic cancer risk assessment in Latin America via innovative pairing of clinical training and genomic tools. American Association for Cancer Research (AACR) Annual Meeting 2016; New Orleans.
Manrique JE, Sullcahuamán-Allende Y, Limache-García A. Asesoría genética sobre cáncer en el Perú. Revista Peruana de Medicina Experimental y Salud Pública. 2013;30:118-23.
Fundación Génesis Uruguay. Mira el programa de “37 Grados” sobre el cáncer hereditario. Available at: http://www.fundaciongenesis. org.uy/es/. [Accessed February 25, 2017].
Blazer KR, MacDonald DJ, Ricker C, Sand S, Uman GC, Weitzel JN. Outcomes from intensive training in genetic cancer risk counseling for clinicians. Genet Med. 2005;7:40-7.
Blazer KR, Nehoray B, Solomon I, et al. Leveraging the Resources of an Innovative Clinical Cancer Genetics Training Program to Address Disparities in Cancer Prevention and Control in Latin America. International Cancer Education Conference: Cancer Education in Diverse Populations: Disparities, Genomics & Innovations, 2015, abst.
Palmero EI, Alemar B, Schuler-Faccini L, et al. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genet Mol Biol. 2016;39:210-22.
Lynce F, Graves KD, Jandorf L, et al. Genomic disparities in breast cancer among Latinas. Cancer Control. 2016;23:359-72.
NHGRI. The Cost of Sequencing a Human Genome. 2017. Available at: https://www.genome.gov/sequencingcosts/. [Accessed February 25, 2017].
Kantarjian H, Steensma D, Rius Sanjuan J, Elshaug A, Light D. High cancer drug prices in the United States: reasons and proposed solutions. J Oncol Pract. 2014;10:e208-11.
Solano AR, Aceto GM, Delettieres D, et al. BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. SpringerPus. 2012;1:20.
Solano AR, Cardoso FC, Romano V, et al. Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice. Oncotarget. 2016. [Epub ahead of print].
Gomes M, Costa M, Borojevic R, et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat. 2007;103:349-53.
Maistro S, Teixeira N, Encinas G, et al. Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 2016;16:934.
Felix GE, Abe-Sandes C, Machado-Lopes TM, et al. Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. Hum Genome Var. 2014;1:14012.
Silva FC, Lisboa BC, Figueiredo MC, et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet. 2014;15:55.
Esteves VF, Thuler LC, Amendola LC, et al. Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil. Braz J Med Biol Res. 2009;42:453-7.
Dufloth RM, Carvalho S, Heinrich JK, et al. Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med J. 2005;123:192-7.
Gallardo M, Silva A, Rubio L, et al. Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat. 2006;95:81-7.
Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, et al. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat. 2011;126:705-16.
Jara L, Ampuero S, Santibanez E, et al. BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet. 2006;166:36-45.
Sanchez A, Faundez P, Carvallo P. Genomic rearrangements of the BRCA1 gene in Chilean breast cancer families: an MLPA analysis. Breast Cancer Res Treat. 2011;128:845-53.
Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, et al. Full-Exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer. PloS One. 2012;7:e37432.
Ruiz-Flores P, Sinilnikova OM, Badzioch M, et al. BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat. 2002;20:474-5.
Torres-Mejía G, Royer R, Llacuachaqui M, et al. Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer Epidemiol Biomarkers Prev. 2015;24:498-505.
Lara K, Consigliere N, Perez J, Porco A. BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res. 2012; 45:117-30.