Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group.

摘要: Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion families with multiple cases early-onset breast and/or ovarian cancer. Since isolation last year, >65 distinct scattered throughout coding region have been detected, making analysis time consuming and technically challenging. We developed multiplex heteroduplex that is designed to analyze one-quarter sequence in single-step screening procedure will detect approximately 50% all so far reported breast/ovarian cancer families. used this technique 162 history identified 12 35