Sanjeevani Arora

The paper identifies a germline KDM3C polymorphism linked to impaired DNA repair and increased sensitivity to chemoradiotherapy in cancers like rectal and head and neck squamous cell carcinomas.

The paper identifies DNA repair and replication defects in early-onset renal cancer patients without known germline variants, suggesting these defects contribute to cancer development and may inform treatment strategies.

MetaMutationalSigs aggregates and compares mutational signature refitting results from different tools to facilitate comparison across cancer types.

The paper identifies frequent RRM2B amplification in multiple tumors, links it to DNA repair defects and poor outcomes, and suggests therapeutic opportunities.

The paper examines the prevalence of pathogenic variants in DNA damage response genes in early-onset renal cancer patients undergoing genetic testing and finds that DDR gene variants are present in 8.55% of patients.