Please use this identifier to cite or link to this item: 10.1186/1471-2350-14-61
Title: BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families
Authors: Berzina, Dace
Nakazawa-Miklasevica, Miki
Zestkova, Jekaterina
Aksenoka, Karina
Irmejs, Arvids
Gardovskis, Andris
Kalniete, Dagnija
Gardovskis, Janis
Miklasevics, Edvins
RSU Institute of Oncology
Keywords: BRCA2;Breast cancer;Hereditary cancer families;Mutation analysis;3.1 Basic medicine;3.2 Clinical medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;Genetics;Genetics(clinical);SDG 3 - Good Health and Well-being
Issue Date: 14-Jun-2013
Citation: Berzina , D , Nakazawa-Miklasevica , M , Zestkova , J , Aksenoka , K , Irmejs , A , Gardovskis , A , Kalniete , D , Gardovskis , J & Miklasevics , E 2013 , ' BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families ' , BMC Medical Genetics , vol. 14 , no. 1 , 61 . https://doi.org/10.1186/1471-2350-14-61
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.
DOI: 10.1186/1471-2350-14-61
ISSN: 1471-2350
Appears in Collections:Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure

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