title: BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia.
abstract: OBJECTIVE
  In this report, we summarise data on BRCA1 gene analysis in Latvia to characterise criteria of genetic testing for breast and ovarian cancer susceptibility.
  
  
  METHODS
  Analysis by SSCP/HD, MALDI-TOF mass spectrometry or DNA sequencing was used for mutation detection. Mutations identified were confirmed by direct DNA sequencing.
  
  
  RESULTS
  Out of 1068 breast and 231 ovarian cancer patients from different families: 58 carried the c.5266dupC and 43 carried the c.4035delA mutations. Every 4th patient in our study did not report cancer in the family. The breast cancer was diagnosed earlier in carriers of the c.5266dupC than in carriers of the c.4035delA (p=0.003). The incidence of breast or ovarian cancer does not differ among the 2 mutation carriers in our patient group. The nature of the c.5266dupC mutation might be more deleterious.
  
  
  CONCLUSIONS
  We recommend the screening of 4 founder BRCA1 mutations in all breast and ovarian cancer patients in Latvia at diagnosis of disease regardless of family history or age. The BRCA1 screening can be carried out efficiently using the MALDI-TOF mass spectrometry mutation detection method developed in the Biomedical Research and Study Centre (Riga, Latvia).
authors.affiliation: Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia. Electronic address: laima@biomed.lu.lv.
authors.forename: Laima
authors.initials: L
authors.lastname: Tihomirova
authors.affiliation: Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia.
authors.forename: Iveta
authors.initials: I
authors.lastname: Vaivade
authors.affiliation: Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia.
authors.forename: Oksana
authors.initials: O
authors.lastname: Fokina
authors.affiliation: Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia.
authors.forename: Raitis
authors.initials: R
authors.lastname: Peculis
authors.affiliation: Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia.
authors.forename: Ilona
authors.initials: I
authors.lastname: Mandrika
authors.affiliation: Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia.
authors.forename: Olga
authors.initials: O
authors.lastname: Sinicka
authors.affiliation: Latvian Oncology Centre, Riga, Latvia.
authors.forename: Aivars
authors.initials: A
authors.lastname: Stengrevics
authors.affiliation: Oncology Clinic of the Hospital "Piejuras slimnica", Liepaja, Latvia.
authors.forename: Anna
authors.initials: A
authors.lastname: Krilova
authors.affiliation: Oncology Clinic of the Hospital "Piejuras slimnica", Liepaja, Latvia.
authors.forename: Guntars
authors.initials: G
authors.lastname: Keire
authors.affiliation: Oncology Clinic of the Hospital "Piejuras slimnica", Liepaja, Latvia.
authors.forename: Janis
authors.initials: J
authors.lastname: Petrevics
authors.affiliation: Latvian Oncology Centre, Riga, Latvia.
authors.forename: Janis
authors.initials: J
authors.lastname: Eglitis
authors.affiliation: Latvian Oncology Centre, Riga, Latvia.
authors.forename: Mihails
authors.initials: M
authors.lastname: Timofejevs
authors.affiliation: Faculty of Medicine, University of Latvia, Riga, Latvia.
authors.forename: Marcis
authors.initials: M
authors.lastname: Leja
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007844:Latvia / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D004273:DNA, Neoplasm
keywords: Age at diagnosis; BRCA1 mutation; Cancer; Latvia; Mass spectrometry