Research Papers:

BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile

Carolina Alvarez, Teresa Tapia, Elisa Perez-Moreno, Patricia Gajardo-Meneses, Catalina Ruiz, Mabel Rios, Claudio Missarelli, Mariela Silva, Adolfo Cruz, Luis Matamala, Luis Carvajal-Carmona, Mauricio Camus and Pilar Carvallo _

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Oncotarget. 2017; 8:74233-74243. https://doi.org/10.18632/oncotarget.18815

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Carolina Alvarez1,*, Teresa Tapia1,*, Elisa Perez-Moreno1, Patricia Gajardo-Meneses1, Catalina Ruiz2, Mabel Rios3, Claudio Missarelli3, Mariela Silva3, Adolfo Cruz4, Luis Matamala5, Luis Carvajal-Carmona6, Mauricio Camus2 and Pilar Carvallo1

1Department of Cell and Molecular Biology, Faculty of Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile

2Centro de Cáncer, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

3Unidad de Patología Mamaria, Hospital Base de Valdivia, Valdivia, Chile

4Unidad de Patología Mamaria, Hospital Barros Luco Trudeau, Santiago, Chile

5Unidad de Patología Mamaria, Hospital Regional de Antofagasta, Antofagasta, Chile

6Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

*These authors contributed equally to this work

Correspondence to:

Pilar Carvallo, email: [email protected]

Keywords: BRCA1, BRCA2, founder mutation, breast cancer, Chile

Received: April 28, 2017     Accepted: June 12, 2017     Published: June 29, 2017


Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2, shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population.

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PII: 18815