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|Title:||BRCA2 mutations in a population-based series of patients with ocular melanoma|
|Keywords:||Adolescent; Family; Female; Genes,Brca2; genetics; history; Humans; Male; Melanoma; Middle Aged; Mutation; Adult; Prevalence; Research Support,Non-U.S.Gov't; Women; Aged; Australia; breast; cancer; diagnosis; Exons; Eye Neoplasms|
|Journal Title:||Int J Cancer|
|Page number start:||188|
|Page number end:||191|
|Abstract:||We studied the BRCA2 gene for germline mutations in 71 of 99 patients (72%) with ocular melanoma who were diagnosed consecutively in Australia in 1997 and 1998. Patients considered for our study fulfilled one of the following critiera: (i) were 50 years of age or less at diagnosis; (ii) had bilateral disease (2 patients); (iii) reported a family history of ocular melanoma (4 patients). Mutation detection was performed using the protein truncation test and denaturing high-performance liquid chromatography with primers designed to include intron-exon boundaries. Six DNA changes were found of which 2 were exonic, in exons 14 (A>C in nucleotide 7244 leading to His>Arg) and 27 (base pair substitution in nucleotide 9976 leading to a stop codon). One exonic change has been reported previously. None of the intronic mutations were deemed to affect splicing efficiency. Neither exonic mutation was in a person with bilateral ocular melanoma or a family history of cutaneous melanoma. We estimated the prevalence of possible loss of function changes in BRCA2 in patients with ocular melanoma at 3% (95% CI 0-10%). This figure was similar to previous estimates of 2.8% and 2% in nonrepresentative samples of patients with ocular melanoma and 2.1% in a representative sample of young women with breast cancer|
|Programme:||Claire Vajdic; Bruce Armstrong|
|Division:||Cancer Research Division|
|Appears in Collections:||Research Articles|
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