A diagnostic test kit for determining a predisposition for breast and ovarian cancer, materials and methods for such determination

作者: Peter Devilee , Egbert Bakker , Anne Petrij-Bos , Garrit-Jan Boudewijn van Ommen

DOI:

关键词: GeneticsSomatic cellDiagnostic testBiologyMechanism (biology)Ovarian cancerCancer researchHuman geneticsRepeated sequencegenomic DNAGermline mutation

摘要: The present invention relates generally to the field of human genetics, and more specifically detection a specific type germline mutations in BRCA1 gene, which will predispose breast ovarian cancer. In addition, molecular genetic mechanism that may have mediated genesis these mutations, particular role Alu repetitive DNA elements intronic regions BRCA1. further somatic this gene cancer, their use diagnosis prognosis particularly screening genomic DNA, are useful for inherited predisposition

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