作者: Peter Devilee , Egbert Bakker , Anne Petrij-Bos , Garrit-Jan Boudewijn van Ommen
DOI:
关键词: Genetics 、 Somatic cell 、 Diagnostic test 、 Biology 、 Mechanism (biology) 、 Ovarian cancer 、 Cancer research 、 Human genetics 、 Repeated sequence 、 genomic DNA 、 Germline 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