The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. (5th April 2013)

• Record Type: Journal Article
• Authors: Akbari, MR; Donenberg, T; Lunn, J; Curling, D; Turnquest, T; Krill‐Jackson, E; Zhang, S; Narod, SA; Hurley, J
• Is Part Of: Clinical genetics. Volume 85:Number 1(2014:Jan.)
• Page Start: 64
• Page End: 67
• Publication Date: 2013-04-05
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12132
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>We sought to identify the full range of founder mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic> in the Bahamas and to estimate the proportion of all <italic>BRCA1</italic> and <italic>BRCA2</italic> mutations that are accounted for by founder mutations. 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 <italic>BRCA1</italic> and <italic>BRCA2</italic> genes and multiplex ligation‐dependent probe amplification (MLPA) for 156 patients. A novel founder mutation in <italic>BRCA2</italic> (exon 17 818delA) was seen in four different patients and five other unique mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic>, including a large deletion (exons 8–9) in <italic>BRCA1</italic>. In total, a mutation was seen in 58 of the 214 patients (27%); 92% of carriers carried one of the seven founder mutations. Approximately 27% of unselected cases of breast cancer in the Bahamian population are attributable to a mutation in <italic>BRCA1</italic> or <italic>BRCA2</italic>, 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.</p> </abstract>