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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia / Alejandro Vélez Hoyos    

Público ISBD Título : Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia Tipo de documento : documento electrónico Autores : Alejandro Vélez Hoyos, Fecha de publicación : 2020 Títulos uniformes : Breast Cancer Research Idioma : Inglés (eng) Palabras clave : BRCA1 c.3331_3334delCAAG  Breast cancer  Founder mutation  Haplotype Resumen : Background: The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. Methods: BC mutation carrier cases from Colombia (n = 32), Spain (n = 13), Portugal (n = 2), Chile (n = 10), Africa (n = 1), and Brazil (n = 2) were genotyped with the genome-wide single nucleotide polymorphism (SNP) arrays to evaluate haplotype diversity around BRCA1 c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surrounding BRCA1. Data were phased using SHAPEIT2, and identical by descent regions were determined using BEAGLE and GERMLINE. DMLE+ was used to date the mutation in Colombia and Iberia. Results: The haplotype reconstruction revealed a shared 264.4-kb region among carriers from all six countries. The estimated mutation age was ~ 100 generations in Iberia and that it was introduced to South America early during the European colonization period. Conclusions: Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening. Mención de responsabilidad : Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Angel Criollo, Ana Estrada-Florez, Gilbert Mateus, Alejandro Velez, Jenny Carmona, Justo Olaya, Elisha Garcia, Guadalupe Polanco-Echeverry, Jacob Stultz, Carolina Alvarez, Teresa Tapia, Patricia Ashton-Prolla, Brazilian Familial Cancer Network, Ana Vega, Conxi Lazaro, Eva Tornero, Cristina Martinez-Bouzas, Mar Infante, Miguel De La Hoya, Orland Diez, Brian L. Browning, COLUMBUS Consortium, Bruce Rannala, Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry & Luis G. Carvajal-Carmona Referencia : Breast Cancer Res. 2020 Oct 21;22(1):108. DOI (Digital Object Identifier) : 10.1186/s13058-020-01341-3 PMID : 33087180 Derechos de uso : CC BY En línea : https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-020-013 [...] Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5194 Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia [documento electrónico] / Alejandro Vélez Hoyos,  . - 2020. Obra : Breast Cancer Research Idioma : Inglés (eng) Palabras clave : BRCA1 c.3331_3334delCAAG  Breast cancer  Founder mutation  Haplotype Resumen : Background: The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. Methods: BC mutation carrier cases from Colombia (n = 32), Spain (n = 13), Portugal (n = 2), Chile (n = 10), Africa (n = 1), and Brazil (n = 2) were genotyped with the genome-wide single nucleotide polymorphism (SNP) arrays to evaluate haplotype diversity around BRCA1 c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surrounding BRCA1. Data were phased using SHAPEIT2, and identical by descent regions were determined using BEAGLE and GERMLINE. DMLE+ was used to date the mutation in Colombia and Iberia. Results: The haplotype reconstruction revealed a shared 264.4-kb region among carriers from all six countries. The estimated mutation age was ~ 100 generations in Iberia and that it was introduced to South America early during the European colonization period. Conclusions: Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening. Mención de responsabilidad : Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Angel Criollo, Ana Estrada-Florez, Gilbert Mateus, Alejandro Velez, Jenny Carmona, Justo Olaya, Elisha Garcia, Guadalupe Polanco-Echeverry, Jacob Stultz, Carolina Alvarez, Teresa Tapia, Patricia Ashton-Prolla, Brazilian Familial Cancer Network, Ana Vega, Conxi Lazaro, Eva Tornero, Cristina Martinez-Bouzas, Mar Infante, Miguel De La Hoya, Orland Diez, Brian L. Browning, COLUMBUS Consortium, Bruce Rannala, Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry & Luis G. Carvajal-Carmona Referencia : Breast Cancer Res. 2020 Oct 21;22(1):108. DOI (Digital Object Identifier) : 10.1186/s13058-020-01341-3 PMID : 33087180 Derechos de uso : CC BY En línea : https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-020-013 [...] Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5194

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Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia / Juan David Figueroa Cuesta    

Público ISBD Título : Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia Tipo de documento : documento electrónico Autores : Juan David Figueroa Cuesta, Fecha de publicación : 2014 Títulos uniformes : Hereditary Cancer in Clinical Practice Idioma : Inglés (eng) Palabras clave : Colombia  Breast cancer  Hereditary  BRCA1  BRCA2 Resumen : Background: Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different founder mutations have been identified in two studies of breast cancer patients in the Bogota region. It is important that the frequency of mutations be established among unselected cases of breast cancer of other regions of Colombia in order to estimate the genetic burden of this cancer in Colombia and to plan genetic services. The aim of this study was to establish the mutation frequencies of the BRCA genes in breast cancer patients unselected for family history or age, from Medellin, Colombia. Methods: We enrolled 280 unselected women with breast cancer from a large public hospital in Medellin, Colombia. A detailed family history from each patient and a blood sample was obtained and processed for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques including a panel of recurrent Hispanic BRCA mutations which consists of fifty BRCA1 mutations and forty-six BRCA2 mutations, including the five recurrent Colombian BRCA mutations. All mutations were confirmed by direct sequencing. Results: Genetic testing was successfully completed for 244 of the 280 cases (87%). Among the 244 cases, three deleterious mutations were identified (two in BRCA1 and one in BRCA2), representing 1.2% of the total. The average age of breast cancer in the mutation-positive cases was 34 years. The two BRCA1 mutations were known founder mutations (3450del4 in exon 11 and A1708E in exon 18). The BRCA2 mutation was in exon 11 (5844del5) and has not been previously reported in individuals of Colombian descent. Among the three mutation-positive families was a breast cancer family and two families with no history of breast or ovarian cancer. Conclusion:The frequency of BRCA mutations in unselected breast cancer cases from the Medellin region of Colombia is low and is approximately 1.2%. Mención de responsabilidad : Julián Esteban Londoño Hernández, Marcia Llacuachaqui, Gonzalo Vásquez Palacio, Juan David Figueroa, Jorge Madrid, Mauricio Lema, Robert Royer, Song Li, Garrett Larson, Jeffrey N Weitzel, Steven A Narod Referencia : Hered Cancer Clin Pract. 2014 Apr 17;12(1):11. DOI (Digital Object Identifier) : 10.1186/1897-4287-12-11 PMID : 24742220 Derechos de uso : CC BY En línea : https://hccpjournal.biomedcentral.com/articles/10.1186/1897-4287-12-11 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3821 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia [documento electrónico] / Juan David Figueroa Cuesta,  . - 2014. Obra : Hereditary Cancer in Clinical Practice Idioma : Inglés (eng) Palabras clave : Colombia  Breast cancer  Hereditary  BRCA1  BRCA2 Resumen : Background: Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different founder mutations have been identified in two studies of breast cancer patients in the Bogota region. It is important that the frequency of mutations be established among unselected cases of breast cancer of other regions of Colombia in order to estimate the genetic burden of this cancer in Colombia and to plan genetic services. The aim of this study was to establish the mutation frequencies of the BRCA genes in breast cancer patients unselected for family history or age, from Medellin, Colombia. Methods: We enrolled 280 unselected women with breast cancer from a large public hospital in Medellin, Colombia. A detailed family history from each patient and a blood sample was obtained and processed for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques including a panel of recurrent Hispanic BRCA mutations which consists of fifty BRCA1 mutations and forty-six BRCA2 mutations, including the five recurrent Colombian BRCA mutations. All mutations were confirmed by direct sequencing. Results: Genetic testing was successfully completed for 244 of the 280 cases (87%). Among the 244 cases, three deleterious mutations were identified (two in BRCA1 and one in BRCA2), representing 1.2% of the total. The average age of breast cancer in the mutation-positive cases was 34 years. The two BRCA1 mutations were known founder mutations (3450del4 in exon 11 and A1708E in exon 18). The BRCA2 mutation was in exon 11 (5844del5) and has not been previously reported in individuals of Colombian descent. Among the three mutation-positive families was a breast cancer family and two families with no history of breast or ovarian cancer. Conclusion:The frequency of BRCA mutations in unselected breast cancer cases from the Medellin region of Colombia is low and is approximately 1.2%. Mención de responsabilidad : Julián Esteban Londoño Hernández, Marcia Llacuachaqui, Gonzalo Vásquez Palacio, Juan David Figueroa, Jorge Madrid, Mauricio Lema, Robert Royer, Song Li, Garrett Larson, Jeffrey N Weitzel, Steven A Narod Referencia : Hered Cancer Clin Pract. 2014 Apr 17;12(1):11. DOI (Digital Object Identifier) : 10.1186/1897-4287-12-11 PMID : 24742220 Derechos de uso : CC BY En línea : https://hccpjournal.biomedcentral.com/articles/10.1186/1897-4287-12-11 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3821

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