Variation to Biology: Optimizing Functional Analysis of Cancer Risk Variants

S Nelson, D Carrick, D Daee… - JNCI: Journal of the …, 2024 - academic.oup.com
Research conducted over the past 15+ years has identified hundreds of common germline
genetic variants associated with cancer risk but understanding the biological impact of these …

Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study

NP Tjader, AJ Beer, J Ramroop, MC Tai… - Cancer Research …, 2024 - aacrjournals.org
In breast tumors, somatic mutation frequencies in TP53 and PIK3CA vary by tumor subtype
and ancestry. Emerging data suggest tumor mutation status is associated with germline …