Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.

Research output: Contribution to journalArticlepeer-review


BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA). Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. Two healthy daughters of a deceased female patient who had had metachronous breast cancer and CCA received genetic counseling to assess their cancer risk. Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. For the first time, a CCA somatic BRCA mutation has been used to identify a family with HBOC.

Original languageEnglish
Article number1292
JournalFrontiers in Oncology
Publication statusPublished - Aug 12 2020


  • biliary tract cancers
  • BRCA1
  • BRCA2
  • hereditary BRCA cancer
  • somatic mutations

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


Dive into the research topics of 'Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.'. Together they form a unique fingerprint.

Cite this