Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.
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.
Rodriguez
Rolando Comacho
RC
The National Institute of Oncology, Havana, Cuba.
Esperon
Antonio Alejandro
AA
Ropero
Ramon
R
Rubio
Maria Caridad
MC
Rodriguez
Ronald
R
Ortiz
Rosa M
RM
Anta
Juan J Lence
JJ
de los Rios
Mario
M
Carnesolta
Deyanira
D
del Olivera
Maria C
MC
Vansam
Somalia Stiu
SS
Royer
Robert
R
Akbari
Mohammad R
MR
Donenberg
Talia
T
Narod
Steven A
SA
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
D019313:BRCA1 Protein; D024682:BRCA2 Protein