The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas

M. R. Akbari, T. Donenberg, J. Lunn, D. Curling, T. Turnquest, E. Krill-Jackson, S. Zhang, S. A. Narod, Judith Hurley

Research output: Contribution to journalArticle

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Abstract

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. 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 multiplex ligation-dependent probe amplification (MLPA) for 156 patients. 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 (exons 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. 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.

Original languageEnglish
Pages (from-to)64-67
Number of pages4
JournalClinical Genetics
Volume85
Issue number1
DOIs
StatePublished - Jan 1 2014

Fingerprint

Bahamas
Breast Neoplasms
Mutation
Exons
BRCA2 Gene
BRCA1 Gene
Multiplex Polymerase Chain Reaction
Genetic Testing

Keywords

  • Bahamas
  • BRCA1
  • Breast cancer
  • Hereditary

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Akbari, M. R., Donenberg, T., Lunn, J., Curling, D., Turnquest, T., Krill-Jackson, E., ... Hurley, J. (2014). The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clinical Genetics, 85(1), 64-67. https://doi.org/10.1111/cge.12132

The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. / Akbari, M. R.; Donenberg, T.; Lunn, J.; Curling, D.; Turnquest, T.; Krill-Jackson, E.; Zhang, S.; Narod, S. A.; Hurley, Judith.

In: Clinical Genetics, Vol. 85, No. 1, 01.01.2014, p. 64-67.

Research output: Contribution to journalArticle

Akbari, MR, Donenberg, T, Lunn, J, Curling, D, Turnquest, T, Krill-Jackson, E, Zhang, S, Narod, SA & Hurley, J 2014, 'The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas', Clinical Genetics, vol. 85, no. 1, pp. 64-67. https://doi.org/10.1111/cge.12132
Akbari MR, Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E et al. The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clinical Genetics. 2014 Jan 1;85(1):64-67. https://doi.org/10.1111/cge.12132
Akbari, M. R. ; Donenberg, T. ; Lunn, J. ; Curling, D. ; Turnquest, T. ; Krill-Jackson, E. ; Zhang, S. ; Narod, S. A. ; Hurley, Judith. / The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. In: Clinical Genetics. 2014 ; Vol. 85, No. 1. pp. 64-67.
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