title: BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.
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.
authors.affiliation: Institute of Oncology, Riga Stradins University, Dzirciema Street 16, LV1007 Riga, Latvia.
authors.forename: Dace
authors.initials: D
authors.lastname: Berzina
authors.forename: Miki
authors.initials: M
authors.lastname: Nakazawa-Miklasevica
authors.forename: Jekaterina
authors.initials: J
authors.lastname: Zestkova
authors.forename: Karina
authors.initials: K
authors.lastname: Aksenoka
authors.forename: Arvids
authors.initials: A
authors.lastname: Irmejs
authors.forename: Andris
authors.initials: A
authors.lastname: Gardovskis
authors.forename: Dagnija
authors.initials: D
authors.lastname: Kalniete
authors.forename: Janis
authors.initials: J
authors.lastname: Gardovskis
authors.forename: Edvins
authors.initials: E
authors.lastname: Miklasevics
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D055088:Early Detection of Cancer; D005260:Female; D018703:Founder Effect; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D007844:Latvia; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human