Publication
Clinical impact of ENIGMA-based variant reclassification on genotype-phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.
Said Furkan Yildirim, Pervin Demir, Hakan Kosku, Bulent Yalcin, Ahmet Cevdet Ceylan
Breast cancer (Tokyo, Japan)Sep 25, 2026PMID 42789170doi:10.1007/s12282-026-01913-9 Journal ArticlepubmedProvenance
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- Sep 30, 2026
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BACKGROUND: Accurate interpretation of BRCA1 and BRCA2 variants is essential for meaningful genotype-phenotype correlations and informed clinical decision-making. However, general frameworks such as the ACMG 2015 criteria frequently result in high rates of variants of uncertain significance (VUS),…
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- cancerMalignant Ovarian Neoplasmdictionary0.60
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