Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Screening mammography: benefit of double reading by breast density

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Mortality after contralateral breast cancer in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Evaluation of applying IHC4 as a prognostic model in the translational study of Intergroup Exemestane Study (IES): PathIES

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Pre-diagnostic changes in body mass index and mortality among breast cancer patients

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Shared heritability and functional enrichment across six solid cancers

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Germ-line mutations in the RAD51C gene have recently been identified in families with breast and ovarian cancer and have been associated with an increased risk of ovarian cancer. In this study, we describe the frequency of pathogenic RAD51C mutations identified in Danish breast and/or ovarian cancer families. We screened the RAD51C gene in 1228 Danish hereditary breast and/or ovarian cancer families by next-generation sequencing analysis. The frequency of the identified variants was examined in the exome sequencing project database and in data from 2000 Danish exomes and the presumed significance of missense and intronic variants was predicted by in silico analysis. We identified six families with a pathogenic mutation in RAD51C, including three frameshift mutations, one nonsense mutation, and 2 missense mutations. Overall, pathogenic RAD51C mutations were identified in 0.5 % of Danish families with increased risk of hereditary breast and/or ovarian cancer. Moreover, we identified 24 additional RAD51C variants of which 14 have not been previously reported in the literature. In this study, we determine the prevalence of RAD51C mutations in Danish breast and/or ovarian cancer families. We identified six pathogenic RAD51C mutations as well as 23 variants of uncertain clinical significance and one benign variant. Together, the study extends our knowledge of the RAD51C mutation spectrum and supports that RAD51C should be included in gene panel testing of individuals with high risk of breast and ovarian cancer.

Original languageEnglish
JournalBreast Cancer Research and Treatment
Volume155
Issue number2
Pages (from-to)215-22
Number of pages8
ISSN0167-6806
DOIs
Publication statusPublished - Jan 2016

ID: 46185320