Srushti Uthale, Cancer Genetic Counselor at Tata Memorial Centre, shared on LinkedIn:
“A milestone I’m incredibly grateful for – my second publication!
I’m happy to share our work, ‘Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR),’ now published in JCO Global Oncology.
What makes this study particularly meaningful to me is that it contributes to the limited and underrepresented Indian genomic data in hereditary cancer. I am very grateful to have had the opportunity to work on research that adds population-specific evidence from North India.
One of the important messages from this study is that HRR-associated hereditary risk extends beyond BRCA1/2, which have traditionally received the greatest attention. In our cohort, 17.6% of pathogenic/likely pathogenic HRR variants were in non-BRCA genes, including PALB2, ATM, RAD51C/D and others.
Although many of these non-BRCA genes do not currently have the same established targeted-treatment landscape as BRCA1/2, research and clinical trials are continuing to explore their therapeutic relevance. Building this evidence today is therefore important.
I’m especially grateful to my Professor and HOD, Akhil Kapoor sir, for his constant support, guidance, and encouragement; to Prof. Rajiv Sarin sir for his mentorship and for always encouraging me to learn and grow; and to my wonderful colleagues Anamika C., Anjana Anoop and Dr. Archi Rungta for their collaboration and support throughout this journey.
Here’s to more research that represents our populations and helps shape the future of precision oncology.”
Title: Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR)
Authors: Akhil Kapoor, Bipinesh Sansar, Srushti Uthale, Anamika Chain, Archi Rungta, Anjana Anoop, Bal Krishna Mishra, Ankita Pal, Soumya Thakkar, Anuj Gupta, Rajiv Sarin
Read the Full Article.
Archi Rungta, Medical Research Fellow at Cancer Genetics Clinic MPMMCC VNS, shared on LinkedIn by Srushti Uthale, adding:
“Another publication added to the journey. Happy to share that INSIGHT-HRR has been published in JCO Global Oncology. Grateful for the opportunity to be a part of this work.”
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