Article

A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas.

Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA.
Breast Cancer Research and Treatment (Impact Factor: 4.47). 01/2011; 125(2):591-6. DOI:10.1007/s10549-010-1156-9
Source: PubMed

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.

0 0
 · 
1 Bookmark
 · 
128 Views
  • [show abstract] [hide abstract]
    ABSTRACT: BACKGROUND: We sought to identify the full range of founder mutations in BRCA1 and BRCA2 in the Bahamas and to estimate the proportion of all BRCA1 and BRCA2 mutations that are accounted for by founder mutations. METHODS: We studied 214 Bahamian women with invasive breast cancer, unselected for age or family history. A founder mutation had previously been identified in 49 patients. We conducted full sequencing of the BRCA1 and BRCA2 genes and MLPA for 156 patients. RESULTS: A novel founder mutation in BRCA2 (exon 17 818delA) was seen in four different patients and five other unique mutations in BRCA1 and BRCA2, including a large deletion (exon 8-9) in BRCA1. In total, a mutation was seen in 58 of the 214 patients (27%); 92% of carriers carried one of the seven founder mutations. CONCLUSIONS: Approximately 27% of unselected cases of breast cancer in the Bahamian population are attributable to a mutation in BRCA1 or BRCA2, a prevalence which far exceeds that of any other country. The majority of women who carry a mutation in the Bahamas, carry one of the seven founder mutations, making it possible to offer genetic testing to all women at risk for breast cancer in the Bahamas.
    Clinical Genetics 03/2013; · 4.25 Impact Factor
  • [show abstract] [hide abstract]
    ABSTRACT: OBJECTIVES: To describe the experience of genetic testing in Austrian women with a BRCA1 or BRCA2 mutation, in terms of preventive measures taken and incident cancers diagnosed. METHODS: We collected clinical information on 246 Austrian women with a BRCA1 or BRCA2 mutation tested between 1995 and 2012, and followed 182 of them for an average of 6.5 years. RESULTS: Of the 90 women who were cancer-free at baseline, 21.4% underwent preventive bilateral mastectomy (PBM), 46.1% had preventive bilateral salpingo-oophrectomy, and one took tamoxifen. 58.8% of the at-risk women underwent at least one screening breast MRI. Of the 85 women with breast cancer, 69.4% had a unilateral mastectomy or lumpectomy and 30.6% had a contralateral mastectomy. In the follow-up period, 14 new invasive breast cancers (six first primary and eight contralateral), one DCIS case, two incident ovarian cancer cases, and one peritoneal cancer were diagnosed. CONCLUSIONS: In Austria, the majority of healthy women with a BRCA1 or BRCA2 mutation opt for preventive oophorectomy and MRI screening to manage their breast cancer risk; few have preventive mastectomy or take tamoxifen.
    Clinical Genetics 06/2013; · 4.25 Impact Factor
  • Source
    [show abstract] [hide abstract]
    ABSTRACT: Non-communicable diseases, including cancer, are overtaking infectious disease as the leading health-care threat in middle-income and low-income countries. Latin American and Caribbean countries are struggling to respond to increasing morbidity and death from advanced disease. Health ministries and health-care systems in these countries face many challenges caring for patients with advanced cancer: inadequate funding; inequitable distribution of resources and services; inadequate numbers, training, and distribution of health-care personnel and equipment; lack of adequate care for many populations based on socioeconomic, geographic, ethnic, and other factors; and current systems geared toward the needs of wealthy, urban minorities at a cost to the entire population. This burgeoning cancer problem threatens to cause widespread suffering and economic peril to the countries of Latin America. Prompt and deliberate actions must be taken to avoid this scenario. Increasing efforts towards prevention of cancer and avoidance of advanced, stage IV disease will reduce suffering and mortality and will make overall cancer care more affordable. We hope the findings of our Commission and our recommendations will inspire Latin American stakeholders to redouble their efforts to address this increasing cancer burden and to prevent it from worsening and threatening their societies.
    The Lancet Oncology 04/2013; 14(5):391-436. · 25.12 Impact Factor