BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families

Dace Berzina, Miki Nakazawa-Miklasevica, Jekaterina Zestkova, Karina Aksenoka, Arvids Irmejs, Andris Gardovskis, Dagnija Kalniete, Janis Gardovskis, Edvins Miklasevics

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)
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Abstract

Background: The estimated ratio of hereditary breast/ovarian cancer (HBOC) based on family history is 1.5% in Latvia. This is significantly lower than the European average of 5-10%. Molecular markers like mutations and SNPs can help distinguish HBOC patients in the sporadic breast and ovarian cancer group.Methods: 50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes. The newly found mutations were screened for in the breast and ovarian cancer group of 1075 patients by Real Time-PCR/HRM analysis and RFLP.Results: Four BRCA2 mutations including three novel BRCA2 frameshift mutations and one previously known BRCA2 frameshift mutation and one BRCA1 splicing mutation were identified. Two of the BRCA2 mutations were found in a group of consecutive breast cancer patients with a frequency of 0.51% and 0.38%.Conclusions: Molecular screening of sequential cancer patients is an important tool to identify HBOC families.

Original languageEnglish
Article number61
JournalBMC Medical Genetics
Volume14
Issue number1
DOIs
Publication statusPublished - 14 Jun 2013

Keywords*

  • BRCA2
  • Breast cancer
  • Hereditary cancer families
  • Mutation analysis

Field of Science*

  • 3.1 Basic medicine
  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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