Ovarian cancer genome

Methods Mol Biol. 2013:1049:3-7. doi: 10.1007/978-1-62703-547-7_1.

Abstract

Ovarian cancer (OC) is a relatively frequent malignant disease with a lifetime risk approaching to approximately 1 in 70. As many as 15-25 % OC arise due to known heterozygous germ-line mutations in DNA repair genes, such as BRCA1, BRCA2, RAD51C, NBN (NBS1), BRIP, and PALB2. Sporadic ovarian cancers often phenocopy the features of BRCA1-related hereditary disease (so-called BRCAness), i.e., show biallelic somatic inactivation of the BRCA1 gene. Tumor-specific BRCA1 deficiency renders selective sensitivity of transformed cells to platinating compounds and several other anticancer drugs, which explains high response rates of OC to systemic therapies. High-throughput molecular profiling of OC is instrumental for further progress in identification of novel OC diagnostic markers as well as for the development of new OC-specific treatments. However, interpretation of the huge bulk of incoming data may present a challenge. There is a critical need in the development of bioinformatic tools capable to integrate the multiplicity of available data sets into biologically and medically meaningful pieces of knowledge.

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Computational Biology / methods*
  • Female
  • Genome, Human*
  • Germ-Line Mutation
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Ovarian Neoplasms / etiology
  • Ovarian Neoplasms / genetics*

Substances

  • BRCA1 Protein
  • BRCA2 Protein