PMID- 37510369
OWN - NLM
STAT- MEDLINE
DCOM- 20230731
LR  - 20230801
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 7
DP  - 2023 Jul 18
TI  - Mutations in Structural Genes of the Mitochondrial Complex IV May Influence 
      Breast Cancer.
LID - 10.3390/genes14071465 [doi]
LID - 1465
AB  - 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.
FAU - de Oliveira, Ricardo Cunha
AU  - de Oliveira RC
AUID- ORCID: 0000-0001-6956-411X
AD  - Laboratory of Human and Medical Genetics, Graduate Program in Genetics and 
      Molecular Biology, Federal University of Para, Belem 66075-110, Brazil.
FAU - Dos Reis, Savio Pinho
AU  - Dos Reis SP
AD  - Center for Biological and Health Sciences, State University of Para, Belem 
      66087-662, Brazil.
FAU - Cavalcante, Giovanna C
AU  - Cavalcante GC
AUID- ORCID: 0000-0001-9814-4819
AD  - Laboratory of Human and Medical Genetics, Graduate Program in Genetics and 
      Molecular Biology, Federal University of Para, Belem 66075-110, Brazil.
LA  - eng
SI  - figshare/10.6084/m9.figshare.23260352
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230718
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - EC 1.9.3.1 (Electron Transport Complex IV)
SB  - IM
MH  - Humans
MH  - Female
MH  - *Electron Transport Complex IV/genetics
MH  - *Breast Neoplasms/genetics
MH  - Mitochondria/genetics/metabolism
MH  - Mutation
MH  - Genes, Mitochondrial
PMC - PMC10379055
OTO - NOTNLM
OT  - breast cancer
OT  - complex IV
OT  - mitochondria
OT  - oxidative phosphorylation
COIS- The authors declare no conflict of interest.
EDAT- 2023/07/29 11:49
MHDA- 2023/07/31 11:41
PMCR- 2023/07/18
CRDT- 2023/07/29 01:17
PHST- 2023/06/14 00:00 [received]
PHST- 2023/07/13 00:00 [revised]
PHST- 2023/07/17 00:00 [accepted]
PHST- 2023/07/31 11:41 [medline]
PHST- 2023/07/29 11:49 [pubmed]
PHST- 2023/07/29 01:17 [entrez]
PHST- 2023/07/18 00:00 [pmc-release]
AID - genes14071465 [pii]
AID - genes-14-01465 [pii]
AID - 10.3390/genes14071465 [doi]
PST - epublish
SO  - Genes (Basel). 2023 Jul 18;14(7):1465. doi: 10.3390/genes14071465.