Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population.

CONCLUSIONS: Our results demonstrated that clinical significance of not only VUS, but also pathogenic/likely pathogenic variants varied from time to time in the Chinese population. Precise reinterpretation of BRCA1/2 variants is of crucial importance to genetic counseling or clinical decision-making for risk individuals or patients.
PMID: 32566972 [PubMed - as supplied by publisher]

Source: Breast Cancer - June 21, 2020 Category: Cancer & Oncology Authors: Li D, Shi Y, Li A, Cao D, Su H, Yang H, Zhi Q, Yang Y, Lan Z, Zhou T, You X, Hu G Tags: Breast Cancer Source Type: research