Lajus, Tirzah Braz PettaCoutinho, Jessica Dayanna Landivar2019-12-102021-10-062019-12-102021-10-062019-11-13COUTINHO, Jessica Dayanna Landivar. Identificação de portadores de polipose colônica no Rio Grande do Norte. 2019. 67 f. Monografia (Graduação em Biomedicina) – Centro de Biociências. Universidade Federal do Rio Grande do Norte, 2019.https://repositorio.ufrn.br/handle/123456789/43223In 2002 a new autosomal recessive syndrome was described in literature, involving the homologous MutY gene (MYH or MUTYH), thus being called MUTYH-associated polyposis (MAP) OMIM: 604933. Molecular analysis of the gene evidences that missense mutations MUTYH c.536G>A (p.Y179C) and c.1187G>A (p.G396D), present in 80% of patients with MAP, are the two most frequent mutations in carriers of European ancestry. Inherited biallelic mutations of MUTYH are found in 0.2-0.9% of all colorectal cancer (CRC) patients. In this study, it is proposed to identify the frequency of mutation of gene MUTYH_c.536G>A, of Dutch ancestry, established during the Dutch colonization between 1630 and 1654, in the region of Seridó, in Brazil. For this, capillary sequencing was performed to identify the pathogenic variant MUTYH_c.536G>A from 157 patients in the region of Seridó. The current study made it possible to identify sixty-three carriers of the Y179C mutation in the state of Rio Grande do Norte. The variant was detected in 2.5% of homozygous carriers and 37.6% in heterozygous carriers. Monoallelic and biallelic mutations were present in 50% and 20% of patients with colonic polyposis, respectively (P = 0.012). The PAF associated with MUTYH_c.536A>G has a frequency of 0.0002, according to the 1000Genome database, meanwhile in the population of the study it can be observed that this frequency is 0.24 due to the founding mutation of Dutch origin and consanguineous marriages in the Seridó region. In the studied population it was evaluated that 42.5% of the probands carry the monoallelic mutation and 0.8% of the biallelic mutation are asymptomatic. The present work contributes to the epidemiological, historical and genetic literature by identifying 45% (63⁄140) of carriers of the found mutation in MUTYHc.536A> G in the Seridó region, assisting in identifying the increased risk for cancer and genetic counseling in inbreeding marriages.Attribution-NoDerivs 3.0 Brazilhttp://creativecommons.org/licenses/by-nd/3.0/br/Pólipos colorretaisMUTYH associada a poliposeCâncer colorretalSequenciamento SangerbachelorThesis