Rodney J. Scott
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Rodney J. Scott has a total of 6 co-authors. Here are the top co-authors by number of shared publications:
Anne Kricker
The National Breast Cancer Centre, Camperdown, Australia
1 shared publicationBruce K. Armstrong
The Cancer Council NSW, Kings Cross, Australia
1 shared publicationChristopher J. Ainsworth
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, Callaghan, Australia
1 shared publication- Claire Melissa Vajdic
Kirby Institute, University of New South Wales Sydney New South Wales Australia
1 shared publication Cliff J. Meldrum
Hunter Area Pathology Service, John Hunter Hospital, New Lambton, Australia
1 shared publication- Joanne F. Aitken
Cancer Council Queensland, Queensland, Australia
1 shared publication
Latest Publications
- Open Access
- 13 September 2002
- Published by Wiley in International Journal of Cancer
- Vol. 102 (2) , 188-191
BRCA2 mutations in a population‐based series of patients with ocular melanoma
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.
- 13 September 2002
- Published by Wiley in International Journal of Cancer
- Vol. 102 (2) , 188-191
Open AccessBRCA2 mutations in a population‐based series of patients with ocular melanoma
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.