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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

Author

  • L. M. Pelttari
  • H. Shimelis
  • H. Toiminen
  • A. Kvist
  • T. Törngren
  • A. Borg
  • C. Blomqvist
  • R. Bützow
  • F. Couch
  • K. Aittomäki
  • H. Nevanlinna
Show all

Summary, in English

Gene-panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high-risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene-panel sequencing including also copy number variants (CNV) analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18 of 95 patients (19%). BRCA1/2 mutations were observed in 8 patients (8.4%) and CHEK2 protein-truncating mutations in 7 patients (7.4%). In addition, we identified a novel duplication encompassing most of the RAD51C gene. We further genotyped the duplication in breast or ovarian cancer families (n=1149), in unselected breast (n=1729) and ovarian cancer cohorts (n=553), and in population controls (n=1273). Seven additional duplication carries were observed among cases but none among controls. The duplication associated with ovarian cancer risk (3/590 of all ovarian cancer patients, 0.5%, P=.032 compared with controls) and was found to represent a large fraction of all identified RAD51C mutations in the Finnish population. Our data emphasizes the importance of comprehensive mutation analysis including CNV detection in all the relevant genes.

Department/s

  • Breastcancer-genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year

2018

Language

English

Pages

595-602

Publication/Series

Clinical Genetics

Volume

93

Issue

3

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Cancer and Oncology

Keywords

  • Breast cancer
  • Gene-panel
  • Ovarian cancer
  • RAD51C

Status

Published

ISBN/ISSN/Other

  • ISSN: 0009-9163