Mitochondrial-nuclear epistasis underlying phenotypic variation in breast cancer pathology

The interplay between genes harboring single nucleotide polymorphisms (SNPs) is vital to better understand underlying contributions to the etiology of breast cancer. Much attention has been paid to epistasis between nuclear genes or mutations in the mitochondrial genome. However, there is limited un...

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Bibliographic Details
Published in:Scientific reports 2022-01, Vol.12 (1), p.1393-10, Article 1393
Main Authors: Bushel, Pierre R., Ward, James, Burkholder, Adam, Li, Jianying, Anchang, Benedict
Format: Article
Language:English
Subjects:
631/208/205
631/208/2490/1472
Alleles
Biological Variation, Population - genetics
Breast cancer
Breast Neoplasms - genetics
Cell Communication - genetics
Cell Nucleus - genetics
Cell Nucleus - metabolism
Cell Nucleus - pathology
Cell Size
Epistasis
Epistasis, Genetic
Etiology
Female
Gene expression
Gene Expression Regulation, Neoplastic
Gene Regulatory Networks
Genetic diversity
Genetic Predisposition to Disease
Genetic variance
Genome, Mitochondrial
Genomes
Genotypes
Homozygote
Humanities and Social Sciences
Humans
Insulin
Introns
Mitochondria
Mitochondria - genetics
Mitochondria - metabolism
Mortality risk
multidisciplinary
NADH
NADH dehydrogenase
Nuclei
Pathology
Phenotypic variations
Polymorphism, Single Nucleotide
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
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Summary:The interplay between genes harboring single nucleotide polymorphisms (SNPs) is vital to better understand underlying contributions to the etiology of breast cancer. Much attention has been paid to epistasis between nuclear genes or mutations in the mitochondrial genome. However, there is limited understanding about the epistatic effects of genetic variants in the nuclear and mitochondrial genomes jointly on breast cancer. We tested the interaction of germline SNPs in the mitochondrial (mtSNPs) and nuclear (nuSNPs) genomes of female breast cancer patients in The Cancer Genome Atlas (TCGA) for association with morphological features extracted from hematoxylin and eosin (H&E)-stained pathology images. We identified 115 significant (q-value 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-022-05148-4