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BRCA somatic mutations and epigenetic BRCA modifications in serous ovarian cancer

M Moschetta1, A George2, S B Kaye1

  • 1Gynaecology Unit.

Annals of Oncology : Official Journal of the European Society for Medical Oncology
|April 3, 2016
PubMed

Insights

Poly(ADP-ribose)polymerase (PARP) inhibitors show promise beyond BRCA-mutated ovarian cancer. This review explores somatic BRCA mutations and methylation as homologous recombination deficiency (HRD) markers for broader therapeutic applications.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Poly(ADP-ribose)polymerase (PARP) inhibitors, like olaparib, are approved for germline BRCA-mutated ovarian cancer.
  • Homologous recombination deficiency (HRD) affects up to 50% of high-grade serous (HGS) ovarian cancer patients.
  • HRD mechanisms include germline BRCA mutations, somatic BRCA mutations, and BRCA promoter methylation.

Purpose of the Study:

  • To review the role of somatic BRCA mutations in ovarian cancer.
  • To discuss the relevance of BRCA promoter methylation as a marker of HRD.
  • To explore challenges in utilizing HRD markers in clinical practice.

Main Methods:

  • Literature review of studies on PARP inhibitors and BRCA mutations in ovarian cancer.
  • Analysis of evidence regarding somatic BRCA mutations and BRCA methylation.
  • Discussion of clinical application challenges for HRD markers.

Main Results:

  • PARP inhibitors demonstrate efficacy in germline BRCA-mutated ovarian cancer.
  • Evidence supports broader application of PARP inhibitors in sporadic ovarian cancers.
  • The clinical relevance of BRCA promoter methylation requires further investigation.

Conclusions:

  • Somatic BRCA mutations and BRCA methylation are key HRD markers in ovarian cancer.
  • Routine somatic BRCA mutation testing is increasingly supported.
  • Further research is needed to clarify the utility of epigenetic modifications like BRCA methylation for guiding ovarian cancer treatment.
Keywords:
BRCAmethylationovarian cancersomatic mutation

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