Mitochondrial haplogroups in oncohematological, colorectal and breast cancer samples from CABA and Buenos Aires province (Argentina)

CERLIANI MB; MAYORDOMO AC; SANCHEZ DOVA AC; PIÑERO TA; CAJAL, AR; JAUK VITALI F; GARCIA RIVELLO H; VACCARO CA; RICHARD SM; PAVICIC WH; BRAVI C

Mar del Plata

Congreso; LXIII Reunión Anual de la Sociedad Argentina de Investigación Clínica; 2018

Mitochondrial DNA (mtDNA) variants -a unique SNPs combination- define specific haplotypes, which are gathered in haplogroups showing ethnic differences and a continental-specific distribution. mtDNA haplogroups are suggested to be associated with certain pathologies, including cancer. Aims: 1-Identify mtDNA haplogroups in patients with oncohematological (OncoHemCa), colorectal (CRC) or breast cancer (BrCa) and in control samples, 2-Compare frequencies with those published for the Argentine population, and 3-Analyze the possible role of mtDNA haplogroups as risk factors. Sample set (blood): 96 cases with OncoHemCa and 272 controls, from a public hospital in La Plata (BsAs, Argentina), plus 68 CRC and 54 BrCa cases, recruited at private hospitals from CABA (Argentina) and La Plata, respectively. A sequencing approach and multiplex PCR-APLP assays were used to determine mitochondrial haplogroups. Assignments were performed using bioinformatic tools, phylogeographical criteria and local databases. Regarding OncoHemCa cases, 57.3% were assigned to Amerindian, 36.5% to European/Middle Eastern and 6.2% to African lineages. Controls showed 63.5% of Amerindian, 33.9% of European/Middle Eastern and 2.6% of African ancestry. About CRC cases, 25% were assigned to Amerindian, 69.1% to European/Middle Eastern and 5.9% to African lineages. mtDNA ancestry of BrCa cases was 29.6% Amerindian, 64.8% European/Middle Eastern and 5.6% African. Maternal lineage distribution showed significant differences among cases from the public versus private healthcare system (p