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Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer.


ABSTRACT: Although it has gained more attention in recent years, the relationship between breast cancer (BC) and mitochondrial oxidative phosphorylation (OXPHOS) is still not well understood. Importantly, Complex IV or Cytochrome C Oxidase (COX) of OXPHOS is one of the key players in mitochondrial balance. An in silico investigation of mutations in structural genes of Complex IV was conducted in BC, comprising 2107 samples. Our findings show four variants (rs267606614, rs753969142, rs199476128 and rs267606884) with significant pathogenic potential. Moreover, we highlight nine genes (MT-CO1, MT-CO2, MT-CO3, CO4I2, COX5A, COX5B, COX6A2, COX6C and COX7B2) with a potential impact on BC.

SUBMITTER: de Oliveira RC 

PROVIDER: S-EPMC10379055 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer.

de Oliveira Ricardo Cunha RC   Dos Reis Sávio Pinho SP   Cavalcante Giovanna C GC  

Genes 20230718 7


Although it has gained more attention in recent years, the relationship between breast cancer (BC) and mitochondrial oxidative phosphorylation (OXPHOS) is still not well understood. Importantly, Complex IV or Cytochrome C Oxidase (COX) of OXPHOS is one of the key players in mitochondrial balance. An in silico investigation of mutations in structural genes of Complex IV was conducted in BC, comprising 2107 samples. Our findings show four variants (rs267606614, rs753969142, rs199476128 and rs26760  ...[more]

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