Identifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypes.

ABSTRACT:

Purpose

A 3-biomarker homologous recombination deficiency (HRD) score is a key component of a currently FDA-approved companion diagnostic assay to identify HRD in patients with ovarian cancer using a threshold score of ≥ 42, though recent studies have explored the utility of a lower threshold (GIS ≥ 33). The present study evaluated whether the ovarian cancer thresholds may also be appropriate for major breast cancer subtypes by comparing the genomic instability score (GIS) distributions of BRCA1/2-deficient estrogen receptor-positive breast cancer (ER + BC) and triple-negative breast cancer (TNBC) to the GIS distribution of BRCA1/2-deficient ovarian cancer.

Methods

Ovarian cancer and breast cancer (ER + BC and TNBC) tumors from ten study cohorts were sequenced to identify pa

SUBMITTER: Lenz L 

PROVIDER: S-EPMC10504389 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature