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Study identifies a targetable lung cancer mutation

Study was published in Cancer Cell

FOSTER CITY, CALIFORNIA, UNITED STATES, October 29, 2018 / -- Scientists from MedGenome, Bangalore, India in collaboration with oncologists from Tata Memorial Hospital, Mumbai, India and scientists at Genentech, a member of the Roche Group, South San Francisco, Calif., USA, report in Cancer Cell the identification of a treatable mutation linked to lung cancer. A mutation in HER2, a gene normally amplified in breast cancer, was found mutated in a familial lung cancer patient. Based on the mutation profile the patient was treated with an approved HER2 inhibitor that normally is used for treating breast cancer. The study also reports several additional actionable activating HER2 mutations in multiple cancers in the same region of HER2 as observed in the lung cancer patient.

MedGenome is the leading DNA based diagnostics provider in India. “Applying advanced next generation sequencing techniques, we were able to identify a mutation that was linked to lung cancer development in a patient from India. It is an important demonstration of the benefits of genomics in the clinical medicine and patient care” said Dr. Ramprasad VL, COO and co-author in the paper. Dr Kumar Prabhash, lead clinician on the study and also a co-author on the paper from the Tata Memorial Hospital, Mumbai, immediately ceased on the identification of the mutation and matched the patients with an approved drug that would likely benefit the patient. “I was delighted to see that the patient when matched with the right drug went from being incapacitated to being normal. The CT scans showed her lung tumors had resolved following the treatment and was responsive for a long period of time”

India with its unique population history and over 4,000 population groups provides a unique opportunity for disease gene discovery. MedGenome is working with a large clinical network across India to setup cohorts for disease gene discovery using genomics techniques, that can ultimately lead to new targeted therapies for various diseases.

About MedGenome

MedGenome is a genomics-driven research and diagnostics company with a mission to improve global health by decoding the genetic information contained in an individual’s genome. Our powerful genomics solutions accelerate drug discovery research for pharma and biotech companies. Our unique access to genomics data with clinical and phenotypic data provides insights into complex diseases at the genetic and molecular level to facilitate research in personalized healthcare. MedGenome is the market leader for genetic diagnostic testing in India and has worked with thousands of doctors, hospitals, and patients across India by applying Next Generation Sequencing (NGS) techniques to large disease cohorts in cancer, eye and neurological disorders, diabetes, cardiovascular diseases and rare cancers. For more information, visit us at

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