Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
Background: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. Methods: BC mutation c...
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| Format: | Article |
| Status: | Published version |
| Publication date: | 2020 |
| Country: | España |
| Institution: | Universidad de Barcelona |
| Repository: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/173973 |
| Online Access: | https://hdl.handle.net/2445/173973 |
| Access Level: | Open access |
| Keyword: | Càncer de mama Càncer d'ovari Breast cancer Ovarian cancer |
| _version_ | 1878731427677208576 |
|---|---|
| author | Asis Tuazon, Anna Marie De |
| author2 | Lott, Paul Bohorquez, Mabel Benavides, Jennyfer Ramirez, Carolina Criollo, Angel Estrada Florez, Ana Mateus, Gilbert Velez, Alejandro Carmona, Jenny Olaya, Justo Garcia, Elisha Polanco Echeverry, Guadalupe Stultz, Jacob Alvarez, Carolina Tapia, Teresa Ashton Prolla, Patricia Vega, Ana Lázaro García, Conxi Tornero, Eva Martinez Bouzas, Cristina Infante, Mar Hoya, Miguel De La Diez, Orland Browning, Brian L. Rannala, Bruce Teixeira, Manuel R. Carvallo, Pilar Echeverry, Magdalena Carvajal Carmona, Luis G. Brazilian Familial Cancer Network COLUMBUS Consortium |
| author2_role | author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| author_browse | Alvarez, Carolina Ashton Prolla, Patricia Asis Tuazon, Anna Marie De Benavides, Jennyfer Bohorquez, Mabel Brazilian Familial Cancer Network Browning, Brian L. COLUMBUS Consortium Carmona, Jenny Carvajal Carmona, Luis G. Carvallo, Pilar Criollo, Angel Diez, Orland Echeverry, Magdalena Estrada Florez, Ana Garcia, Elisha Hoya, Miguel De La Infante, Mar Lott, Paul Lázaro García, Conxi Martinez Bouzas, Cristina Mateus, Gilbert Olaya, Justo Polanco Echeverry, Guadalupe Ramirez, Carolina Rannala, Bruce Stultz, Jacob Tapia, Teresa Teixeira, Manuel R. Tornero, Eva Vega, Ana Velez, Alejandro |
| author_facet | Asis Tuazon, Anna Marie De Lott, Paul Bohorquez, Mabel Benavides, Jennyfer Ramirez, Carolina Criollo, Angel Estrada Florez, Ana Mateus, Gilbert Velez, Alejandro Carmona, Jenny Olaya, Justo Garcia, Elisha Polanco Echeverry, Guadalupe Stultz, Jacob Alvarez, Carolina Tapia, Teresa Ashton Prolla, Patricia Vega, Ana Lázaro García, Conxi Tornero, Eva Martinez Bouzas, Cristina Infante, Mar Hoya, Miguel De La Diez, Orland Browning, Brian L. Rannala, Bruce Teixeira, Manuel R. Carvallo, Pilar Echeverry, Magdalena Carvajal Carmona, Luis G. Brazilian Familial Cancer Network COLUMBUS Consortium |
| author_role | author |
| collection | Dipòsit Digital de la UB |
| description | Background: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.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 aroundBRCA1c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surroundingBRCA1. 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 similar to 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_2f60ca3b5ee371c19235307b6152a3bb |
| institution | Universidad de Barcelona |
| instname_str | Universidad de Barcelona |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:diposit.ub.edu:2445/173973 |
| publishDate | 2020 |
| publishDateSort | 2020 |
| publisher | BioMed Central |
| publisherStr | BioMed Central |
| reponame_str | Dipòsit Digital de la UB |
| spelling | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia Asis Tuazon, Anna Marie De Lott, Paul Bohorquez, Mabel Benavides, Jennyfer Ramirez, Carolina Criollo, Angel Estrada Florez, Ana Mateus, Gilbert Velez, Alejandro Carmona, Jenny Olaya, Justo Garcia, Elisha Polanco Echeverry, Guadalupe Stultz, Jacob Alvarez, Carolina Tapia, Teresa Ashton Prolla, Patricia Vega, Ana Lázaro García, Conxi Tornero, Eva Martinez Bouzas, Cristina Infante, Mar Hoya, Miguel De La Diez, Orland Browning, Brian L. Rannala, Bruce Teixeira, Manuel R. Carvallo, Pilar Echeverry, Magdalena Carvajal Carmona, Luis G. Brazilian Familial Cancer Network COLUMBUS Consortium Càncer de mama Càncer d'ovari Breast cancer Ovarian cancer Background: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.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 aroundBRCA1c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surroundingBRCA1. 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 similar to 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. BioMed Central https://hdl.handle.net/2445/173973 |
| spellingShingle | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia Asis Tuazon, Anna Marie De Càncer de mama Càncer d'ovari Breast cancer Ovarian cancer |
| status_str | publishedVersion |
| title | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia |
| title_full | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia |
| title_fullStr | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia |
| title_full_unstemmed | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia |
| title_short | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia |
| title_sort | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia |
| topic | Càncer de mama Càncer d'ovari Breast cancer Ovarian cancer |
| topic_facet | Càncer de mama Càncer d'ovari Breast cancer Ovarian cancer |
| url | https://hdl.handle.net/2445/173973 |