Genomic Signatures Predict the Immunogenicity of BRCA-Deficient Breast Cancer.

ABSTRACT:

Purpose

Breast cancers with BRCA1/2 alterations have a relatively high mutational load, suggesting that immune checkpoint blockade may be a potential treatment option. However, the degree of immune cell infiltration varies widely, and molecular features contributing to this variability remain unknown.

Experimental design

We hypothesized that genomic signatures might predict immunogenicity in BRCA1/2 breast cancers. Using The Cancer Genome Atlas (TCGA) genomic data, we compared breast cancers with (89) and without (770) either germline or somatic BRCA1/2 alterations. We also studied 35 breast cancers with germline BRCA1/2 mutations from Penn using WES and IHC.

Results

We found that homologous recombination deficiency (HRD) scores were negati

SUBMITTER: Kraya AA 

PROVIDER: S-EPMC6635013 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature