title: BRCA1 5382insC founder mutation has not a significative recurrent presence in Northeastern Romanian cancer patients.
abstract: Developed two decades ago, oncogenetic medical practice mainly concern breast, ovarian and colorectal cancers, and is targeting the hereditary risk factor, the only one that shows positive predictive value justifying the molecular diagnosis. Screening for BRCA1 and BRCA2 gene mutations is standard practice today for hereditary breast and ovarian cancer (HBOC) families in developed countries, offering the possibility of medical follow-up. The gold standard for molecular diagnosis is Sanger sequencing of all exons and exon-intron boundaries, which is expensive and time consuming. More than 3000 BRCA sequence variants are reported in international databases, but in some populations or ethnic groups a few founder mutations showed to have a recurrent presence. This may be very useful in establishing a combined technical approach for mutation detection, including rapid and cheap pre-screening methods for most common mutations. The BRCA1 5382insC mutation has an Ashkenazi founder effect and is also the second most recurrent mutation in Eastern European populations, having been already identified in several Romanian HBOC patients. Here we present a complete screening of consecutive series of breast and ovarian cancer patients for the presence of BRCA1 5382insC. The presence of the mutation was investigated by allele specific multiplex-PCR on genomic DNA extracted from peripheral blood. No mutation carrier was identified among breast or ovarian cancer patients. Our findings suggest that BRCA1 5382insC may not have a strong recurrent effect in Romanian population comparing to neighboring countries. This may be particularly useful in establishing further pre-screening strategies.
authors.affiliation: Department of Oncogenetics, "Grigore T. Popa" University of Medicine and Pharmacy, Iassy, Romania; luciannegura@yahoo.fr.
authors.forename: Lucian
authors.initials: L
authors.lastname: Negură
authors.forename: Cristian Petru
authors.initials: CP
authors.lastname: Duşa
authors.forename: Miruna Ioana
authors.initials: MI
authors.lastname: Balmuş
authors.forename: Doina
authors.initials: D
authors.lastname: Azoicăi
authors.forename: Anca Mihaela
authors.initials: AM
authors.lastname: Negură
authors.forename: Mihai Vasile
authors.initials: MV
authors.lastname: Marinca
authors.forename: Lucian
authors.initials: L
authors.lastname: Miron
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000473:pathology*; D016133:Polymerase Chain Reaction; D012383:Romania; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein