IDENTIFICATION OF GENETIC VARIANTS PREDISPOSING TO INHERITED COLORECTAL CANCER SYNDROMES IN ARGENTINA

ANDREA CONSTANZA MAYORDOMO; ALISA OLKINUORA; MARIANA CORAGLIO; PÄIVI PELTOMÄKI; WALTER PAVICIC; JONATHAN J. ZAIAT; TAMARA PIÑERO; KARINA COLLIA ÁVILA; CARLOS VACCARO; JAVIER I. MURILLO; BELÉN CERLIANI; ROMINA CAJAL; ALEJANDRO GUTIÉRREZ; MARCELO MARTI; ADRIÁN TURJANSKI

Modalidad virtual

Congreso; 1st Congress of Women in Bioinformatics and Data Science Latin America; 2020

Colorectal cancer (CRC) is one of the most common cancers worldwide. About 5-10% of all CRC are caused by a heritable germline genetic alteration, that can be passed on from parent to child [1]. The two major subtypes of hereditary CRC are called hereditary non-polyposis CRC (HNPCC/Lynch Syndrome) and polyposis syndromes [2]. The later can be divided into Familial Adenomatous (Classic/Severe or Attenuated, FAP or AFAP, respectively), Juvenile, or Mixed, among others [3]. Genetic testing sequencing approaches, such as Whole Exome (WES) or Gene Panel, can be used to identify causal genetic defects of such inherited syndromes. It is important to note that this test are not widely implemented in Argentina.We were able to identify genetic variants in genes already associated to disease development, as well as variants in genes indirectly related to polyposis disorder, which would need to be analyzed at a functional level. In addition, we describe an exploratory way to find a correlation between patient´s clinical, molecular and genetic features, which would allow us to understand the wide variety of symptoms in this pathology.