Clinicopathologic Characterization of Breast Carcinomas in Patients with Non-BRCA Germline Mutations: Results from a Single Institution ’s High Risk Population

As multigene panel testing for hereditary cancer syndromes becomes commonplace, germline mutations in genes other than BRCA1/2 are increasingly identified in breast cancer patients. While histopathologic features of BRCA-mutated breast cancers have been well-characterized, less is known about non-BRCA-related hereditary cancers. We herein investigate the clinicopathologic characteristics of breast cancers in women with non-BRCA germline mutations. Out of 612 women who underwent germline testing, 16 (2.6%) of women with 18 cancers had mutations in non-BRCA genes: ATM, CHEK2, PALB2, TP53, BMPR1A, BRIP1, MUTYH, and RAD50.

Source: Human Pathology - June 26, 2018 Category: Pathology Authors: Alice E. Meiss, Martha Thomas, Susan C. Modesitt, Kari L. Ring, Kristen A. Atkins, Anne M. Mills Tags: Original Contributions Source Type: research