Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test

Abstract

Approximately 3% of patients with breast cancer have a pathogenic or likely pathogenic variant (mutation) in a high-risk breast cancer gene, such as BRCA1 and BRCA2 (BRCA1/2) and PALB2, which increases breast cancer risk more than fourfold. Another roughly 3% have a germline mutation in a moderatepenetrance breast cancer gene, such as ATM or CHEK2, which confers a two-to threefold increased risk of breast cancer.

Topics & Concepts