Variants in < em > BRCA1/2 < /em > in a hospital-based cohort in Chile and national literature review

CONCLUSION: Our findings advocate for the integration of NGS multi-gene panel testing as a primary strategy within our population. This approach allows for the comprehensive assessment of single nucleotide variants and CNVs in BRCA1/2, alongside other high and moderately penetrant genes associated with breast and ovarian cancer.PMID:38566764 | PMC:PMC10984842 | DOI:10.3332/ecancer.2024.1683

Source: Ecancermedicalscience - April 3, 2024 Category: Cancer & Oncology Authors: Fernanda J Martin Isabel M Saffie Mabel A Hurtado Diana Avila-Jaque Rodrigo A Lagos Carolina A Selman Jonathan Z Huserman Valentina A Castillo Badir J Chahu án Source Type: research