Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia

Hereditary Cancer in Clinical Practice

Steven A Narod⁵  Jeffrey N Weitzel¹  Garrett Larson¹  Song Li⁵  Robert Royer⁵  Mauricio Lema²  Jorge Madrid⁴  Juan David Figueroa⁶  Gonzalo Vásquez Palacio³  Marcia Llacuachaqui⁵  Julián Esteban Londoño Hernández³ 

[1] City of Hope National Medical Center, Duarte, CA, USA;Clínica de Oncología Astorga, Clínica SOM, Medellín, Colombia;Unidad de Genética Médica, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia;Clínica Las Américas, Medellín, Colombia;Women’s College Research Institute, 790 Bay Street, 7th Floor, Toronto, Ontario M5G 1N8, Canada;Hospital Pablo Tobón Uribes, Medellín, Colombia

关键词: BRCA2;    BRCA1;    Hereditary;    Breast cancer;    Colombia;   

Others  :  805639
DOI  :  10.1186/1897-4287-12-11

 received in 2013-10-03, accepted in 2013-12-31,  发布年份 2014

【 摘 要 】

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%.

【 授权许可】

   
2014 Hernández et al.; licensee BioMed Central Ltd.

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