Familial Cancer

, Volume 17, Issue 1, pp 23–30 | Cite as

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia

  • A. M. Cock-RadaEmail author
  • C. A. Ossa
  • H. I. Garcia
  • L. R. Gomez
Original Article


Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis. Nineteen patients (22.4%) carried a deleterious germline mutation in a cancer susceptibility gene: BRCA1 (7), BRCA2 (8), PALB2 (1), ATM (1), MSH2 (1) and PMS2 (1). The frequency of mutations in BRCA1/2 was 17.6%. One BRCA2 mutation (c.9246dupG) was recurrent in five non-related individuals and is not previously reported in the country. Seventeen mutation-carriers had a diagnosis of breast cancer (median age of diagnosis of 36 years) and two of ovarian cancer. All BRCA1 mutation-carriers with breast cancer had triple negative tumors (median age of diagnosis of 31 years). Variants of unknown significance were reported in 35% of test results. This is the first report of a multi-gene study for hereditary breast and/or ovarian cancer in a Latin American country. We found a high frequency and a wide spectrum of germline mutations in cancer susceptibility genes in Colombian patients, some of which were not previously reported in the country. We observed a very low frequency of known Colombian founder BRCA1/2 mutations (1.2%) and we found mutations in other genes such as PALB2, ATM, MSH2 and PMS2. Our results highlight the importance of performing multi-gene panel testing, including comprehensive BRCA1/2 analysis (full gene sequencing and large rearrangement analysis), in high-risk breast and/or ovarian cancer patients in Colombia.


Hereditary breast and/or ovarian cancer Multi-gene cancer panels BRCA1 BRCA2 Latin America Hispanic 



This study was supported and funded by the Instituto de Cancerologia Las Americas and the Comité para el Desarollo de la Investigación—CODI, CPT 1229, Universidad de Antioquia. We also thank the team of the Instituto de Cancerologia Las Americas: Dr. Mauricio Borrero, Dr. Fernando Herazo, Dr. Gonzalo A. Angel, Dr. Rene Pareja, Dr. Gabriel J. Rendon, Dr. Luis J. Palacios, Dr. Maria E. Montoya, Dr. Diego M. Gonzalez, Dr. Luz D. Suarez, Dr. Alejo Jimenez, Dr. Eduardo Gutierrez, Dr. Leon D. Ortiz, Dr. Pedro A. Reyes, Dr. Adolfo L. Lopez, Dr. Aminta Perez, Dr. Franz Usuga, Dr. Isabel C. Duque, Dr. Lina M. Arbelaez, Dr. Joaquin P. Rueda, Dr. David A. Mosquera, Paula Arboleda, Alejandra Saldarriaga, Adine Carvajal, Viviana Sanchez, Angela Estrada and Tatiana Gutierrez.

Authors contributions

AMCR and AO drafted the manuscript. AMCR performed Genetic Counseling of the patients. All authors revised the article critically and approved the final manuscript.

Compliance with ethical standards

Conflict of interest

AMCR received financial support from Gencell for attending the meeting “IARC 2016: Global Cancer, Ocurrence, Causes and Avenues to Prevention” in France and the “XIV Congreso Nacional y VIII Congreso Internacional de Genética Humana” in Colombia in 2016. The other co-authors declare that they have no conflict of interest.

Ethical approval

All procedures performed involving human participants were in accordance with the ethical standards of the institutional and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer Science+Business Media Dordrecht 2017

Authors and Affiliations

  1. 1.Instituto de Cancerologia Las AmericasMedellinColombia
  2. 2.Facultad de MedicinaUniversidad de AntioquiaMedellinColombia
  3. 3.Instituto de CancerologíaMedellinColombia

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