A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas
ABSTRACT The Bahamas is a group of islands in the Caribbean with a high incidence of early onset breast cancer. In isolated populations, the identification of founder mutations in cancer predisposing genes may facilitate genetic testing and counseling. To date, six distinct BRCA1 mutations have been found in patients from cancer families from the Bahamas. The frequencies of these mutant alleles have not been measured in a large series of unselected breast cancer patients from Bahamas. We studied 214 Bahamian women with invasive breast cancer, unselected for age or family history of cancer. All patients were screened for six mutations in the BRCA1 gene that have previously been reported in cancer patients from the Bahamas. A mutation was identified in 49 of the 214 breast cancer patients (23%). The mutation frequency was particularly high in women diagnosed before age 50 (33%) in women with a first-degree relative with breast or ovarian cancer (41%) and in women with bilateral breast cancer (58%). Approximately 23% of unselected cases of breast cancer in the Bahamian population are attributable to a founder mutation in the BRCA1 gene-this is the highest reported mutation prevalence for any country studied to date. Genetic testing for these mutations is advisable for all women diagnosed with breast cancer in the Bahamas.
- SourceAvailable from: 188.8.131.52
- [Show abstract] [Hide abstract]
ABSTRACT: Genetic testing for BRCA1 and BRCA2 mutations is gaining acceptance in clinical oncology worldwide and may help target unaffected high-risk women for prevention and for close surveillance. Annual screening with MRI seems to be an effective surveillance strategy, but the long term follow-up of women with small MRI-detected breast cancers is necessary to establish its ultimate value. Women with cancer and a BRCA mutation may benefit from tailored treatments, such as cisplatin or olaparib. The treatment goals for a woman with a BRCA-associated breast cancer should be to prevent recurrence of the initial cancer and to prevent second primary breast and ovarian cancers. Mutations in BRCA1 and BRCA2 are presented throughout the world and it is important that the benefits of genetic testing and of targeted therapies be extended to women who live outside of North America and Western Europe.Nature Reviews Clinical Oncology 10/2010; 7(12):702-7. DOI:10.1038/nrclinonc.2010.166 · 15.70 Impact Factor
Article: Bridging the urological divide[Show abstract] [Hide abstract]
ABSTRACT: The advanced disease clinical presentations, higher morbidity and mortality rates and lack of available treatment options in prostate cancer care, attest to disparities in the delivery and outcomes of urological services in Black men of African lineage in both the Developed and Developing countries. This gap in health care and services in the global management of prostate cancer denotes the urological divide. Through the experience of a Developing country urologist with a comparative literature review, this presentation defines the determinants of the disparity through deficiencies in human, material and financial resources, as is most prevalent in Developing countries. Solutions to ending health care disparities must take into account the existing development phase of Third World countries and thus determine whether the Developed countries should export a total service delivery system or seek primarily to advance the competence and skills of the existing Developing country resources. Collaboration in prostate cancer research has the greatest promise and sustainability of bridging this urological divide and is of mutual benefit to both entities.Infectious Agents and Cancer 09/2011; 6 Suppl 2(Suppl 2):S4. DOI:10.1186/1750-9378-6-S2-S4 · 2.07 Impact Factor