A New BRCA1 Mutation in a Filipino Woman With a Family History of Breast and Ovarian Cancer
| Autor: | Maria J. Worsham, S. David Nathanson, Pat Christopherson, Gerard Pals, Mark H.P. Strunk, Sandra R. Wolman |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Michigan Philippines Population Genes BRCA1 Breast Neoplasms medicine.disease_cause Pathology and Forensic Medicine Frameshift mutation Exon Breast cancer medicine Humans Point Mutation Genetic Predisposition to Disease RNA Neoplasm education Molecular Biology DNA Primers Ovarian Neoplasms Genetics education.field_of_study Mutation business.industry Point mutation Carcinoma Ductal Breast Cancer DNA Neoplasm Cell Biology medicine.disease Stop codon Pedigree Fibroadenoma Female business |
| Zdroj: | Diagnostic Molecular Pathology. 7:164-167 |
| ISSN: | 1052-9551 |
| DOI: | 10.1097/00019606-199806000-00007 |
| Popis: | Mutation of the BRCA1 gene in well-defined breast cancer families has been associated with an 87% lifetime risk for breast cancer and a 44% risk for ovarian cancer. Recent data indicate that the risk associated with these mutations is considerably lower, although still far greater than the risk for disease in the rest of the population. Approximately 81% of the mutations that have been identified have been frameshift (71%) or nonsense (10%) mutations, and either may result in a truncated protein. The protein truncation test (PTT) is often used to screen patients at high risk, because sequencing of this large (100 kb) gene with its 22 coding exons is an arduous task. The PTT was used to analyze genomic DNA and RNA from the peripheral blood of a 31-year-old Filipino woman with a poorly differentiated, stage 2A breast carcinoma and a family history of breast-ovarian cancer. PTT identified the wild-type protein fragment and an additional truncated protein fragment in the patient's sample. Subsequent direct sequencing of the appropriate coding region revealed a point mutation in exon 11 at nucleotide 2178, resulting in a C > T transition that caused a termination (stop codon) in amino acid 687. To our knowledge, this is the first report of mutation of the BRCA1 gene in a Filipino family, and this in-frame stop-codon mutation has not been reported previously. |
| Databáze: | OpenAIRE |
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