Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.

Kyung Sun Park Eun Yoon ChoSeok Jin NamChang-Seok KiJong Won Kim

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

We propose that genetic counseling should be based on the concordant results between these two analyses. When discrepancies are found, those variants are still considered VUS and careful counseling should be provided.Genet Med 18 12, 1250-1257.

Keyphrases

copy number
smoking cessation
genome wide
hiv testing
clinical practice
breast cancer risk
gene expression