Identifying germline pathogenic variants in breast cancer using tumor sequencing.

ABSTRACT:

Purpose

To investigate the performance of an in-house tumor sequencing panel to identify patients with breast cancer and a germline pathogenic variant (gPV).

Patients and methods

Retrospective and blinded tumor sequencing analysis in 90 patients with breast cancer and prior germline genetic testing (45 non-carriers and 45 carriers of a gPV) using an in-house panel (VHIO-300). Sensitivity (S), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) of tumor sequencing were calculated. A Cohen's kappa coefficient ≥0.80 was predefined as minimum to be reliably acceptable for clinical implementation.

Results

The cohort included 84 women and 6 men with a median age of 48 years (29-84). Tumors of germline carriers were mainly stage II (47 % vs

SUBMITTER: Cruellas M 

PROVIDER: S-EPMC11952849 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature