Online-Ressource | |
Verfasst von: | Chang-Claude, Jenny [VerfasserIn] |
Becher, Heiko [VerfasserIn] | |
Titel: | Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes |
Verf.angabe: | 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 |
Jahr des Originals: | 1999 |
Umfang: | 13 S. |
Fussnoten: | Gesehen am 04.10.2017 |
Titel Quelle: | Enthalten in: Disease markers |
Jahr Quelle: | 2002 |
Band/Heft Quelle: | 15(1999), 1/3, S. 53-65 |
ISSN Quelle: | 1875-8630 |
Abstract: | 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. |
DOI: | doi:10.1155/1999/238375 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt. Verlag: http://dx.doi.org/10.1155/1999/238375 |
Verlag: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850798/ | |
DOI: https://doi.org/10.1155/1999/238375 | |
Datenträger: | Online-Ressource |
Sprache: | eng |
K10plus-PPN: | 1564043894 |
Verknüpfungen: | → Zeitschrift |