Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissue.

摘要: Background A major limitation in counseling unaffected women from families with inherited breast and ovarian cancer is that a “true-negative” interpretation of wild type BRCA analysis the proband cannot be inferred absence demonstration mutation segregating kindred. Documentation familial mutations paraffin-derived DNA deceased patients has been limited due to reports technical complications leading lack reproducibility testing archival material.