Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

PLoS One. 2015 Sep 25;10(9):e0136192. doi: 10.1371/journal.pone.0136192. eCollection 2015.

Abstract

Breast Cancer is a complex multifactorial disease for which high-penetrance mutations have been identified. Approaches used to date have identified genomic features explaining about 50% of breast cancer heritability. A number of low- to medium penetrance alleles (per-allele odds ratio < 1.5 and 4.0, respectively) have been identified, suggesting that the remaining heritability is likely to be explained by the cumulative effect of such alleles and/or by rare high-penetrance alleles. Relatively few studies have specifically explored the mitochondrial genome for variants potentially implicated in breast cancer risk. For these reasons, we propose an exploration of the variability of the mitochondrial genome in individuals diagnosed with breast cancer, having a positive breast cancer family history but testing negative for BRCA1/2 pathogenic mutations. We sequenced the mitochondrial genome of 436 index breast cancer cases from the GENESIS study. As expected, no pathogenic genomic pattern common to the 436 women included in our study was observed. The mitochondrial genes MT-ATP6 and MT-CYB were observed to carry the highest number of variants in the study. The proteins encoded by these genes are involved in the structure of the mitochondrial respiration chain, and variants in these genes may impact reactive oxygen species production contributing to carcinogenesis. More functional and epidemiological studies are needed to further investigate to what extent variants identified may influence familial breast cancer risk.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein*
  • BRCA2 Protein*
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Female
  • Genome, Mitochondrial / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mutation*
  • Penetrance

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human
  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases

Grants and funding

This work was supported by Ligue Nationale contre le Cancer (3 grants: PRE05/DSL, PRE07/DSL, PRE11/NA), www.ligue-cancer.net. GENESIS: study design and data collection. This work also received support from the French National Institute of Cancer (Grant INCa n°2008-029/LL-LC), http://www.e-cancer.fr/. (GENESIS: study design and data collection); and the comprehensive cancer center SiRIC Curie, (Site de Recherche Intégrée sur le Cancer: Grant INCa-DGOS-4654), http://www.institut-curie.org/research/institut-curie-integrated-cancer-research-site-siric; www.ligue-cancer.net. GENESIS: study design and data collection.