Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

Hauke, J; Harter, P; Ernst, C; Burges, A; Schmidt, S; Reuss, A; Borde, J; De Gregorio, N; Dietrich, D; El-Balat, A; Kayali, M; Gevensleben, H; Hilpert, F; Altmuller, J; Heimbach, A; Meier, W; Schoemig-Markiefka, B; Thiele, H; Kimmig, R; Nurnberg, P; Kast, K; Richters, L; Sehouli, J; Schmutzler, RK; Hahnen, E

Hahnen, E (通讯作者)，Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, D-50931 Cologne, Nordrhein Westf, Germany.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (3): 248

Abstract

Variant-specific loss of heterozygosity (LOH) analyses may be useful to classify BRCA1/2 germline variants of unknown significance (VUS). The sensitiv......

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