Quimica Aplicada

Gynecologic Oncology 124 (2012) 236–243

Contents lists available at SciVerse ScienceDirect

Gynecologic Oncology
journal homepage: www.elsevier.com/locate/ygyno

BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia
Alexandra Ortiz Rodríguez a, Marcia Llacuachaqui b, Gonzalo Guevara Pardo a, Robert Royer b, Garrett Larson c, Jeffrey N. Weitzel c, Steven A. Narod b,⁎
a bc

Grupo de Genética y Oncología Molecular, Bogotá, Colombia Women's College Research Institute, Toronto, ON, Canada City of Hope National Medical Center, Duarte, CA, USA

a r t i c l e

i n f o

a b s t r a c t
Objective. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Colombia has not yet been explored. Five founder mutations have been identified in two previousstudies of breast cancer patients in the Bogota region [1,2]. It is important that the frequency of mutations be established among unselected cases of ovarian cancer in order to estimate the genetic burden of this cancer in Colombia and to plan genetic and preventive services. Methods. We enrolled 100 unselected women with ovarian cancer from the Bogota region, and from northern and southern centralregions of Colombia. A detailed family history was obtained from each patient and a blood sample was processed for DNA analysis. DNA quality was adequate for BRCA testing for 96 women. Mutations in BRCA1 and BRCA2 were sought using a Hispanic BRCA mutation testing panel. All mutations were confirmed by direct sequencing. Results. Fifteen mutations were identified (two in BRCA2 and thirteen in BRCA1)representing 15.6% of the total (95% CI: 7.8% to 21.3%). Among the 15 mutation-positive families there were nine breast-ovarian cancer families, one gastric cancer family, one prostate cancer family, three uterine cancer families, and one family with no history of cancer. A single founder mutation in BRCA1 (3450del4) was seen in 11 patients. Conclusion. In summary, BRCA1 founder mutations are commonin Colombian women with ovarian cancer. Approximately 11.5% of all ovarian cancer cases in the Bogota region are attributable to a single BRCA1 founder mutation. © 2011 Elsevier Inc. All rights reserved.

Article history: Received 26 August 2011 Accepted 25 October 2011 Available online 29 October 2011 Keywords: Colombia Ovarian cancer Hereditary BRCA1 BRCA2

Introduction Colombia is thesecond largest country in South America and has a population of nearly 45 million inhabitants. Approximately 1900 new cases of ovarian cancer are diagnosed each year in Colombia [3]. The age-standardized incidence for ovarian cancer in Colombia is estimated to be 10.1 cases of ovarian cancer per 100,000 per year [3], compared to 11.6 per 100,000 per year in Canada [3] and 13.2 cases per 100,000 peryear (whites) in the USA (SEER Registry). Approximately 13% of all epithelial ovarian cases in Canada are found to have a mutation in BRCA1 or BRCA2[4]. Both BRCA1 and BRCA2 confer susceptibility to ovarian cancer; the cumulative risk of ovarian cancer in women to 70 years of age was estimated to be 39% in BRCA1 carriers and 11% in BRCA2 carriers [5], but the risk may vary according to the specificmutation, the country of residence, and the family history [6–9]. At the present, genetic testing is offered in many centers in North America, Europe, Australia and Israel, but is not generally available in South America. Genetic testing is gaining acceptance worldwide because of the increasing numbers of preventive options available to
⁎ Corresponding author at: Women's College ResearchInstitute, 790 Bay Street, 7th Floor, Toronto, Ontario, M5G 1N8, Canada. Fax: + 1 416 351 3767. E-mail address: steven.narod@wchospital.ca (S.A. Narod). 0090-8258/$ – see front matter © 2011 Elsevier Inc. All rights reserved. doi:10.1016/j.ygyno.2011.10.027

women with a mutation, and because of the development of novel, individualized, cancer therapies [10]. However, genetic testing is expensive and...