Anamika Chain

Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR)

Akhil Kapoor, Srushti Uthale, Anamika Chain, Archi Rungta et autres

PURPOSE Homologous recombination repair (HRR) pathway defects are critical drivers of hereditary cancers, yet population-specific prevalence data from India remain limited. Current testing practices disproportionately focus on BRCA1/2 , potentially underidentifying patients with other HRR gene variants who could benefit from targeted …

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Repeatedly Identified PALB2 Exon 2–3 Large Genomic Deletion in Breast Cancer: Case Report and Clinical Implications

Srushti Uthale, Anamika Chain, Archi Rungta, Rajiv Sarin et autres

Abstract PALB2 is a tumor suppressor gene essential for homologous recombination DNA repair. Pathogenic variants, including large genomic rearrangements (LGRs), predispose to hereditary breast cancer but remain underrecognized. We describe a 34-year-old woman with triple-negative breast cancer carrying a heterozygous PALB2 exon …

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Title: Genetic Counselor Integration Enhancing Uptake of Genetic Testing in Hereditary Cancer Syndromes: A Retrospective Comparative Analysis (GENESIS Study)

Akhil Kapoor, Anamika Chain, Srushti Uthale, Archi Rungta et autres

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