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Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon

The mucin (MUC) family includes several genes aberrantly expressed in multiple carcinomas and mediates diverse pathways essentials for oncogenesis, in both solid and hematological malignancies. Acute Lymphoblastic Leukemia (ALL) can have its course influenced by genetic variants, and it seems more f...

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Autores principales: de Alcântara, Angélica Leite, Pastana, Lucas Favacho, Gellen, Laura Patrícia Albarello, Vieira, Giovana Miranda, Dobbin, Elizabeth Ayres Fragoso, Silva, Thays Amâncio, Pereira, Esdras Edgar Batista, Rodrigues, Juliana Carla Gomes, Guerreiro, João Farias, Fernandes, Marianne Rodrigues, de Assumpção, Paulo Pimentel, Cohen-Paes, Amanda de Nazaré, Santos, Sidney Emanuel Batista Dos, dos Santos, Ney Pereira Carneiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9853325/
https://www.ncbi.nlm.nih.gov/pubmed/36556273
http://dx.doi.org/10.3390/jpm12122053
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author de Alcântara, Angélica Leite
Pastana, Lucas Favacho
Gellen, Laura Patrícia Albarello
Vieira, Giovana Miranda
Dobbin, Elizabeth Ayres Fragoso
Silva, Thays Amâncio
Pereira, Esdras Edgar Batista
Rodrigues, Juliana Carla Gomes
Guerreiro, João Farias
Fernandes, Marianne Rodrigues
de Assumpção, Paulo Pimentel
Cohen-Paes, Amanda de Nazaré
Santos, Sidney Emanuel Batista Dos
dos Santos, Ney Pereira Carneiro
author_facet de Alcântara, Angélica Leite
Pastana, Lucas Favacho
Gellen, Laura Patrícia Albarello
Vieira, Giovana Miranda
Dobbin, Elizabeth Ayres Fragoso
Silva, Thays Amâncio
Pereira, Esdras Edgar Batista
Rodrigues, Juliana Carla Gomes
Guerreiro, João Farias
Fernandes, Marianne Rodrigues
de Assumpção, Paulo Pimentel
Cohen-Paes, Amanda de Nazaré
Santos, Sidney Emanuel Batista Dos
dos Santos, Ney Pereira Carneiro
author_sort de Alcântara, Angélica Leite
collection PubMed
description The mucin (MUC) family includes several genes aberrantly expressed in multiple carcinomas and mediates diverse pathways essentials for oncogenesis, in both solid and hematological malignancies. Acute Lymphoblastic Leukemia (ALL) can have its course influenced by genetic variants, and it seems more frequent in the Amerindian population, which has been understudied. Therefore, the present work aimed to investigate the MUC family exome in Amerindian individuals from the Brazilian Amazon, in a sample containing healthy Native Americans (NAMs) and indigenous subjects with ALL, comparing the frequency of polymorphisms between these two groups. The population was composed of 64 Amerindians from the Brazilian Amazon, from 12 different isolated tribes, five of whom were diagnosed with ALL. We analyzed 16 genes from the MUC family and found a total of 1858 variants. We compared the frequency of each variant in the ALL vs. NAM group, which led to 77 variants with a significant difference and, among these, we excluded those with a low impact, resulting in 63 variants, which were distributed in nine genes, concentrated especially in MUC 19 (n = 30) and MUC 3A (n = 18). Finally, 11 new variants were found in the NAM population. This is the first work with a sample of native Americans with cancer, a population which is susceptible to ALL, but remains understudied. The MUC family seems to have an influence on the development of ALL in the Amerindian population and especially MUC19 and MUC3A are shown as possible hotspots. In addition, the 11 new variants found point to the need to have their clinical impact analyzed.
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spelling pubmed-98533252023-01-21 Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon de Alcântara, Angélica Leite Pastana, Lucas Favacho Gellen, Laura Patrícia Albarello Vieira, Giovana Miranda Dobbin, Elizabeth Ayres Fragoso Silva, Thays Amâncio Pereira, Esdras Edgar Batista Rodrigues, Juliana Carla Gomes Guerreiro, João Farias Fernandes, Marianne Rodrigues de Assumpção, Paulo Pimentel Cohen-Paes, Amanda de Nazaré Santos, Sidney Emanuel Batista Dos dos Santos, Ney Pereira Carneiro J Pers Med Article The mucin (MUC) family includes several genes aberrantly expressed in multiple carcinomas and mediates diverse pathways essentials for oncogenesis, in both solid and hematological malignancies. Acute Lymphoblastic Leukemia (ALL) can have its course influenced by genetic variants, and it seems more frequent in the Amerindian population, which has been understudied. Therefore, the present work aimed to investigate the MUC family exome in Amerindian individuals from the Brazilian Amazon, in a sample containing healthy Native Americans (NAMs) and indigenous subjects with ALL, comparing the frequency of polymorphisms between these two groups. The population was composed of 64 Amerindians from the Brazilian Amazon, from 12 different isolated tribes, five of whom were diagnosed with ALL. We analyzed 16 genes from the MUC family and found a total of 1858 variants. We compared the frequency of each variant in the ALL vs. NAM group, which led to 77 variants with a significant difference and, among these, we excluded those with a low impact, resulting in 63 variants, which were distributed in nine genes, concentrated especially in MUC 19 (n = 30) and MUC 3A (n = 18). Finally, 11 new variants were found in the NAM population. This is the first work with a sample of native Americans with cancer, a population which is susceptible to ALL, but remains understudied. The MUC family seems to have an influence on the development of ALL in the Amerindian population and especially MUC19 and MUC3A are shown as possible hotspots. In addition, the 11 new variants found point to the need to have their clinical impact analyzed. MDPI 2022-12-13 /pmc/articles/PMC9853325/ /pubmed/36556273 http://dx.doi.org/10.3390/jpm12122053 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
de Alcântara, Angélica Leite
Pastana, Lucas Favacho
Gellen, Laura Patrícia Albarello
Vieira, Giovana Miranda
Dobbin, Elizabeth Ayres Fragoso
Silva, Thays Amâncio
Pereira, Esdras Edgar Batista
Rodrigues, Juliana Carla Gomes
Guerreiro, João Farias
Fernandes, Marianne Rodrigues
de Assumpção, Paulo Pimentel
Cohen-Paes, Amanda de Nazaré
Santos, Sidney Emanuel Batista Dos
dos Santos, Ney Pereira Carneiro
Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon
title Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon
title_full Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon
title_fullStr Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon
title_full_unstemmed Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon
title_short Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon
title_sort mucin (muc) family influence on acute lymphoblastic leukemia in cancer and non-cancer native american populations from the brazilian amazon
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9853325/
https://www.ncbi.nlm.nih.gov/pubmed/36556273
http://dx.doi.org/10.3390/jpm12122053
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