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Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer.

Chang-Claude, J; Becher, H; Caligo, M; Eccles, D; Evans, G; Haites, N; Hodgson, S; Møller, P; Weber, BH; Stoppa-Lyonnet, D (1999) Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer. Dis Markers, 15 (1-3). 53 - 65. ISSN 0278-0240 https://doi.org/10.1155/1999/238375
SGUL Authors: Hodgson, Shirley Victoria

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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.

Item Type: Article
Additional Information: PMCID: PMC3850798
Keywords: Adult, Age Factors, Aged, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, DNA Mutational Analysis, Decision Making, Decision Support Techniques, Europe, Female, Genes, BRCA1, Genes, Dominant, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged, Models, Genetic, Neoplasm Proteins, Neoplastic Syndromes, Hereditary, Oncogenes, Ovarian Neoplasms, Predictive Value of Tests, Probability, Risk, Risk Assessment, Sensitivity and Specificity, Transcription Factors
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: Dis Markers
ISSN: 0278-0240
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Dates:
DateEvent
1 October 1999Published
PubMed ID: 10595253
Web of Science ID: 10595253
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URI: https://openaccess.sgul.ac.uk/id/eprint/103768
Publisher's version: https://doi.org/10.1155/1999/238375

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