Cancer Treatment Today

Until recently our knowledge of a genetic contribution to ovarian cancer focused almost exclusively on mutations in the BRCA1/2 genes. However, through germline and tumor sequencing an understanding of the larger phenomenon of homologous recombination deficiency (HRD) has emerged. HRD impairs normal DNA damage repair which results in loss or duplication of chromosomal regions, termed genomic loss of heterozygosity (LOH). The list of inherited mutations associated with ovarian cancer continues to grow with the literature currently suggesting that up to one in four cases will have germline mutations, the majority of which result in HRD. Furthermore, an additional 5–7% of ovarian cancer cases will have somatic HRD. seeral recent studies support the HRD testing to identify somatic BRCA mutations and patient response to treatment with PARP BRCA directed drugs.

Melissa K. Frey and Bhavana Pothur, iHomologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature

Gynecologic Oncology Research and Practice20174:4

Keith Matthew Wilcoxen, Marc Becker, Christopher Neff, Victor Abkevich, Joshua Timothy Jones, Xiaonan Hou…Yan Wang, Anne-Renee Hartman, Mariam M. AlHilli, Alexander Gutin, Shefali Agarwal, Kirsten Timms, Paul Haluska, Use of homologous recombination deficiency (HRD) score to enrich for niraparib sensitive high grade ovarian tumors.Journal of Clinical Oncology 33, no. 15_suppl (May 2015) 5532-5532.

Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Lovise Mæhle, Dag Erik Undlien, Jan Norum and Ellen Schlichting. Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer201717:438