Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer
| Autor: | J, Chang-Claude, H, Becher, M, Caligo, D, Eccles, G, Evans, N, Haites, S, Hodgson, P, Møller, B H, Weber, D, Stoppa-Lyonnet |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Male Risk Genotype DNA Mutational Analysis Decision Making Genes BRCA1 Breast Neoplasms Genetic Counseling Risk Assessment Sensitivity and Specificity Breast Neoplasms Male Decision Support Techniques Neoplastic Syndromes Hereditary Predictive Value of Tests Humans Genetic Predisposition to Disease Genetic Testing genetic risk assessment skin and connective tissue diseases Aged Genes Dominant Probability BRCA2 Protein Ovarian Neoplasms Models Genetic familial breast cancer Age Factors Oncogenes Middle Aged Neoplasm Proteins Europe Female Other genetic counselling Transcription Factors |
| Zdroj: | Disease Markers |
| ISSN: | 0278-0240 |
| Popis: | For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing. We used data from eight collaborating centres comprising 618 families (346 breast cancer only, 239 breast or ovarian cancer) recruited as research families or counselled for familial breast cancer, representing a broad range of family structures. Screening was performed in affected women from 618 families for germ-line mutations in BRCA1 and in 176 families for BRCA2 mutations, using different methods including SSCP, CSGE, DGGE, FAMA and PTT analysis followed by direct sequencing. Germ-line BRCA1 mutations were detected in 132 families and BRCA2 mutations in 16 families. The probability of being a carrier of a dominant breast cancer gene was calculated for the screened individual under the established genetic model for breast cancer susceptibility, first, with parameters for age-specific penetrances for breast cancer only [7] and, second, with age-specific penetrances for ovarian cancer in addition [20]. Our results indicate that the estimated probability of carrying a dominant breast cancer gene gives a direct measure of the likelihood of detecting mutations in BRCA1 and BRCA2. For breast/ovarian cancer families, the genetic model according to Narod et al. [20] is preferable for calculating the proband's genetic risk, and gives detection rates that indicate a 50% sensitivity of the gene test. Due to the incomplete BRCA2 screening of the families, we cannot yet draw any conclusions with respect to the breast cancer only families. |
| Databáze: | OpenAIRE |
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