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2 results on '"LATIN AMERICAN BRCA1/2 MUTATIONS"'

1. Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: Impact on healthcare and clinical practice

Author

Hector Daniel Vuotto, Francisco Bernardo Santillan, Antonio Lorusso, Reinaldo Chacón, Vanesa Romano, Martín Greco, Silvia Adela Avila, Enrique Diaz Canton, Lina Maria Nunez, José Davalos Michel, Florencia Perazzo, Gonzalo Recondo, Eduardo Abalo, María Laura Barrientos, Florencia Cecilia Cardoso, Ignacio Mc Lean, Cristina Noblía, Eduardo Beccar Varela, Oscar G. Mandó, Angela R. Solano, María Viniegra, Gustavo Cortese, Ernesto J. Podestá, Eduardo Gonzalez, and Carlos Bas

Subjects
0301 basic medicine, Latin Americans, CIENCIAS MÉDICAS Y DE LA SALUD, BRCA1/2 spectrum, Population, hispanic panel, HISPANIC PANEL, Medicina Clínica, 03 medical and health sciences, 0302 clinical medicine, purl.org/becyt/ford/3.2 [https], Personal history, education, Latin American BRCA1/2 mutations, LATIN AMERICAN BRCA1/2 MUTATIONS, education.field_of_study, genetic testing policy, BRCA1/2 SPECTRUM, BRCA1/2 RECURRENT MUTATIONS, BRCA1/2 recurrent mutations, Ovary cancer, Clinical Practice, 030104 developmental biology, Geography, Oncology, 030220 oncology & carcinogenesis, purl.org/becyt/ford/3 [https], Medicina Critica y de Emergencia, Clinical Research Paper, Humanities, GENETIC TESTING POLICY
Abstract

BRCA1/2 mutations in Latin America are scarcely documented and in serious need of knowledge about the spectrum of BRCA pathogenic variants, information which may alter clinical practice and subsequently improve patient outcome. In addition, the search for data on testing policies in different regions constitutes a fundamental strength for the present study, which analyzes BRCA1/2 gene sequences and large rearrangements in 940 probands with familial and/or personal history of breast/ovary cancer (BOC). In non-mutated DNA samples, Multiplex Ligation-dependent Probe Amplification assays (MLPA) were used for the analysis of large rearrangements. Our studies detected 179 deleterious mutations out of 940 (19.04%) probands, including 5 large rearrangements and 22 novel mutations. The recurrent mutations accounted for 15.08% of the total and only 2.87% of the probands analyzed, very different from a Hispanic panel previously described. In conclusion: a) this first comprehensive description of the spectrum in BRCA1/2 sheds light on the low frequency of recurrent mutations; b) this information is key in clinical practice to select adequate sequencing studies in our population, subsequently improve patient outcome and prevent damage associated to false normal reports resulting from the use of invalid population panels; c) panels of mutations from other populations should be cautiously validated before imported, even those of apparently similar origin, a concept to be considered beyond significance in Argentina. Fil: Solano, Angela Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina Fil: Cardoso, Florencia Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Romano, Vanesa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Perazzo, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Bas, Carlos. Hospital Aleman; Argentina Fil: Recondo, Gonzalo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Santillan, Francisco Bernardo. Sanatorio Mater Dei; Argentina Fil: Gonzalez, Eduardo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología "Ángel H. Roffo"; Argentina Fil: Abalo, Eduardo. Instituto Universitario CEMIC; Argentina Fil: Viniegra, Maria. Centro de Estudios de Estado y Sociedad; Argentina Fil: Davalos Michel, José. Universidad de Buenos Aires. Facultad de Medicina; Argentina Fil: Nuñez, Lina Maria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Nobilia, Cristina Maria. Instituto de Oncología “Angel H. Roffo”. Universidad de Buenos Aires; Argentina Fil: Mc Lean, Ignacio. Hospital Universitario Austral; Argentina Fil: Diaz Canton, Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Chacon, Reinaldo Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina Fil: Cortese, Gustavo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Beccar Varela, Eduardo. Hospital Universitario Austral; Argentina Fil: Greco, Martin Rodolfo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Barrientos, Maria Laura. Hospital Regional Victor M. Sanguinetti; Argentina Fil: Avila, Silvia Adela. Hospital Provincial de Neuquén; Argentina Fil: Vuotto, Hector Daniel. Sanatorio Mater Dei; Argentina Fil: Lorusso, Antonio. Liga Argentina de Lucha contra el Cancer; Argentina Fil: Podesta, Ernesto Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina Fil: Mando, Oscar Gaspar. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina

Published
2017

2. Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

Author

Solano AR, Cardoso FC, Romano V, Perazzo F, Bas C, Recondo G, Santillan FB, Gonzalez E, Abalo E, Viniegra M, Michel JD, Nuñez LM, Noblia CM, Mc Lean I, Canton ED, Chacon RD, Cortese G, Varela EB, Greco M, Barrientos ML, Avila SA, Vuotto HD, Lorusso A, Podesta EJ, and Mando OG

Abstract

BRCA1/2 mutations in Latin America are scarcely documented and in serious need of knowledge about the spectrum of BRCA pathogenic variants, information which may alter clinical practice and subsequently improve patient outcome. In addition, the search for data on testing policies in different regions constitutes a fundamental strength for the present study, which analyzes BRCA1/2 gene sequences and large rearrangements in 940 probands with familial and/or personal history of breast/ovary cancer (BOC). In non-mutated DNA samples, Multiplex Ligation-dependent Probe Amplification assays (MLPA) were used for the analysis of large rearrangements. Our studies detected 179 deleterious mutations out of 940 (19.04%) probands, including 5 large rearrangements and 22 novel mutations. The recurrent mutations accounted for 15.08% of the total and only 2.87% of the probands analyzed, very different from a Hispanic panel previously described., In Conclusion: a) this first comprehensive description of the spectrum in BRCA1/2 sheds light on the low frequency of recurrent mutations; b) this information is key in clinical practice to select adequate sequencing studies in our population, subsequently improve patient outcome and prevent damage associated to false normal reports resulting from the use of invalid population panels; c) panels of mutations from other populations should be cautiously validated before imported, even those of apparently similar origin, a concept to be considered beyond significance in Argentina., Competing Interests: CONFLICTS OF INTERESTS The authors declare no competing interests

Published
2016
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