title: Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.
abstract: The contribution of BRCA1 and BRCA2 to breast cancer incidence in Cuba has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Cuba, and to identify possible Cuban founder mutations, we conducted a study of unselected breast cancer patients from Havana, Cuba. We enrolled 336 women with breast cancer from a large public hospital in the city. A family history of cancer was obtained from each patient and a blood sample was processed for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. We were able to successfully complete testing on samples from 307 women. Among these, eight mutations were identified (seven in BRCA2 and one in BRCA1) representing 2.6% of the total, including 10% of familial cases and 10% of cases under age forty. One BRCA2 mutation (c.3394C > T) was found in two women, but no clear example of a founder mutation was identified. In summary, BRCA1 and BRCA2 mutations are not uncommon in Cuban women with breast cancer, but the absence of founder mutations precludes the development of a rapid and inexpensive clinical screening test.
authors.affiliation: The National Institute of Oncology, Havana, Cuba.
authors.forename: Rolando Comacho
authors.initials: RC
authors.lastname: Rodriguez
authors.forename: Antonio Alejandro
authors.initials: AA
authors.lastname: Esperon
authors.forename: Ramon
authors.initials: R
authors.lastname: Ropero
authors.forename: Maria Caridad
authors.initials: MC
authors.lastname: Rubio
authors.forename: Ronald
authors.initials: R
authors.lastname: Rodriguez
authors.forename: Rosa M
authors.initials: RM
authors.lastname: Ortiz
authors.forename: Juan J Lence
authors.initials: JJ
authors.lastname: Anta
authors.forename: Mario
authors.initials: M
authors.lastname: de los Rios
authors.forename: Deyanira
authors.initials: D
authors.lastname: Carnesolta
authors.forename: Maria C
authors.initials: MC
authors.lastname: del Olivera
authors.forename: Somalia Stiu
authors.initials: SS
authors.lastname: Vansam
authors.forename: Robert
authors.initials: R
authors.lastname: Royer
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Akbari
authors.forename: Talia
authors.initials: T
authors.lastname: Donenberg
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D003462:Cuba / Q000453:epidemiology; D016021:Epidemiologic Studies; D005260:Female; D006801:Humans; D015994:Incidence; D008487:Medical History Taking; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein