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

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

    Research output: Contribution to journalReviewResearchpeer-review

  2. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Mutation spectrum in South American Lynch syndrome families

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

BACKGROUND: Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish population by screening of 143 Danish pheochromocytoma and paraganglioma patients.

METHODS: Mutational screening was performed by Sanger sequencing or next-generation sequencing. The frequencies of variants of unknown clinical significance, e.g. intronic, missense, and synonymous variants, were determined using the Exome Aggregation Consortium database, while the significance of missense mutations was predicted by in silico and loss of heterozygosity analysis when possible.

RESULTS: We report 18 germline variants; nine in SDHB, six in SDHC, and three in SDHD. Of these 18 variants, eight are novel. We classify 12 variants as likely pathogenic/pathogenic, one as likely benign, and five as variants of unknown clinical significance.

CONCLUSIONS: Identifying and classifying SDHB, SDHC, and SDHD variants present in the Danish population will augment the growing knowledge on variants in these genes and may support future clinical risk assessments.

Original languageEnglish
JournalHereditary Cancer in Clinical Practice
Pages (from-to)13
Publication statusPublished - 2016

    Research areas

  • Journal Article

ID: 49235016