Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes
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,...
Gespeichert in:
| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2002 Jun 7
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| In: |
Disease markers
Year: 1999, Jahrgang: 15, Heft: 1/3, Pages: 53-65 |
| ISSN: | 1875-8630 |
| DOI: | 10.1155/1999/238375 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1155/1999/238375 Verlag, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850798/ 
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| Verfasserangaben: | Jenny Chang-Claude, Heiko Becher, Maria Caligo, Diana Eccles, Gareth Evans, Neva Haites, Shirley Hodgson, Pål Møller, Bernhard H.F. Weber, Dominique Stoppa-Lyonnet for the EC Demonstration Project on Familial Breast Cancer |
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| 520 | |a 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. | ||
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