Abstract A049: Program for the identification, management and monitoring of patients and families at high risk of cancer in a Colombian National Cancer Reference Institution
Authors: Sanabria-Salas María Carolina , Guevara-Pardo Gonzalo , Huertas Antonio , Medina Vilma , Rivera-Herrera Ana Lucía , Mejía Juan Carlos , Acosta Jesús , Wiesner-Ceballo Carolina 
Published: August 2020

Cancer is the second cause of mortality due to noncommunicable diseases in Colombia. In 2015 incident cases of breast (BC), gastric (GC), colorectal (CRC), and ovarian cancer (OC) attended at the Colombian National Cancer Institute (NCI) were 685, 498, 470, and 127, respectively. Although hereditary cancer syndromes are the minority of all cancer cases, the precise identification of individuals and relatives at high risk is a key aspect to the implementation of surveillance/screening, chemoprevention, and preventive surgery strategies for affected and unaffected carriers. In our country there are few studies conducted on hereditary cancer, and little is known about the spectrum of syndromes affecting Colombian families. In the Colombian NCI, we have designed and develop a comprehensive program for the registration, identification, diagnosis, management, and surveillance of cancer cases at high risk. Two main strategies where defined within this pilot program: 1) adjustment of the international protocols to the institutional context for identification and referral criteria of cancer patients with suspected syndrome to genetic counseling, genetic testing criteria, management, and surveillance, and 2) implementation of an institutional registry of patients with hereditary cancer, among other strategies. Also, first-degree relatives (FDR) of the affected carriers are offered to be tested and followed through the Center for Cancer Prevention and Early Detection (CPRED), recently established by the Colombian NCI. This Institutional ongoing program is providing genetic risk assessment to an average of 20 cancer patients per week since April 2018. The most frequent cancer we have attended is BC (56%), followed by CRC (10.5%), OC (6%), GC (5.5%), and others (22%). The average age at diagnosis was 47.3 for BC, 50.6 for CRC, 33.6 for OC, 39.4 for GC, and 47.8 years old (yo) for other cancers. Genetic testing has been offered to the patients according to the international guidelines. From all BC cases, the following fulfilled the Hereditary Breast and Ovarian Cancer (HBOC) criteria: i) 44.3% were diagnosed ≤ 45 yo, ii) 24% were diagnosed with triple-negative breast cancer (TNBC) at ≤ 60 yo, iii) 4% were TNBC cases diagnosed at &gt; 60 yo + ≥ 1 FDR/second-degree relative with BC at &lt; 50 yo, iv) 8% were patients with bilateral BC, v) 4% had a second primary tumor, and vi) 1.3% had Ashkenazi Jewish ancestry. From CRC cases, 50% were diagnosed at &lt; 50 yo regardless of family history of gastrointestinal cancers and 30% were diagnosed at ≥ 50 yo and fulfilled criteria for Lynch or Li Fraumeni syndromes. In the case of GC, 60% of the patients had diffuse gastric cancer subtype at &lt; 50 yo. Finally, all OC cases were submitted for genetic testing since all were diagnosed at &lt; 50 yo; 43% were tested for HBOC since they corresponded to papillary serous subtype and 29% fulfilled criteria for Peutz Jeghers syndrome. To our knowledge, this is the first genetic cancer risk assessment program in the country, based in the largest Colombian cancer hospital.

Citation Format: María Carolina Sanabria-Salas, Gonzalo Guevara-Pardo, Antonio Huertas, Vilma Medina, Ana Lucía Rivera-Herrera, Juan Carlos Mejía, Jesús Acosta, Carolina Wiesner-Ceballo. Program for the identification, management and monitoring of patients and families at high risk of cancer in a Colombian National Cancer Reference Institution [abstract]. In: Proceedings of the Eleventh AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2018 Nov 2-5; New Orleans, LA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl):Abstract nr A049.