Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study

ConclusionsCharacterization of molecular tumor features in patients clinically screened and not screened for PGVs represents a relevant read-out of guideline criteria. The general lack of molecular differences between screened/non-screened patients after stratification by relevant breast cancer subsets questions the ability to improve the identification of screening candidates based on currently used patient and tumor characteristics, pointing us towards universal screening. Nevertheless, while that is not attained, molecular differences identified between PGV carriers/non-carriers suggest the possibility of further refining patient selection within certain patient subsets using RNA-seq through, e.g., gene signatures.Trial registrationThe Sweden Cancerome Analysis Network – Breast (SCAN-B) was prospectively registered at ClinicalTrials.gov under the identifier NCT02306096.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research