Tag Archive for: oncology

Genetic Counselling an Personalized Medicine conference in Hyderabad

Delighted to be a part of 8th Annual BGCI #conference held at the #University of Hyderabad from July 7th to 9th, 2023 where Rakesh Sharma, PhD and Madhuri R presented posters titled “Molecular landscape of #lung adenocarcinoma in India for personalizing therapy” and “Driver gene alterations in EGFR and IDH1 are mutually exclusive in Indian Gliomas”.

Jugnu Jain and Kalpana Kannabiran were invited by Dr Q. Annie Hasan to chair the session on “Psychosocial #ethical and legal issues in #genetics and #genomics ” including panelists Dhavendra kumar Mahati Chittem Saveetha Meganathan, Kelly Ormond and Peter Abad.
Reena Trivedi Vaishnavi Suresh helped put the panel together.

It was an enriching experience, filled with insightful presentations and discussions.

HER2 Oncogenic mutations and amplifications are common across many Indian solid tumors

Until recently, HER2 (or ErbB2) targeting drugs were only approved for HER2-amplified breast & gastric cancers. FDA has now granted accelerated approval for trastuzumab or Enhertu to treat lung cancer patients bearing activating HER2 mutations. We analyzed our data of ~1000 solid cancer cases generated using the OncomineTM Dx NGS panel to determine the pattern of ERBB2 amplification vs. mutations. We see that in some cancers, amplifications are more common (breast, gastric, endometrial cancers) but in others, activating mutations are more common (colorectal, lung, thyroid and gliomas) with the most common mutation being V842I in Indian samples. Molecular insights gained from such NGS analysis can hopefully improve precision medicine by expanding the use of approved HER2-targeting drugs for colorectal, endometrial, gliomas, thyroid and other cancer patients that are likely to benefit from them.

Digital library of whole slide Images Built at Sapien

Landscape of Kinase gene fusions in cancers

Tyrosine kinases such as ALK, RET and ROS1 are often activated by translocations or chromosomal rearrangements that result in increased oncogenic activity and are attractive candidates for targeted therapy. In our #biobank, we have identified many patient samples harbouring ALK, RET and ROS1 rearrangements by NGS.

FDA approved drugs such as Crizotinib (Xalkori, #Pfizer), Ceritinib (Zykadia, #Novartis), and Alectinib (Alecensa, #Roche) that target the kinase activity of ALK; Pralsetinib (Gavreto, Roche) targeting RET fusions in NSCLC; Entrectinib (Rozlytrek, Roche) for ROS1+ metastatic NSCLCs, and novel drugs in #clinicaltrials offer promising therapeutic approaches for not just lung but also breast, colorectal and other solid tumours.

ALK targeted therapy for lung cancer: Integration of NGS genome profiling in management of ALK-mutated NSCLCs in India

The NGS genotyping of our NSCLC cases using ThermoFisher’s Oncomine panel identified 8 genetic variants in the ALK gene in 9 cases (16.67%), some of which, such as G1202R and S1206Y surprisingly confer resistance to #Crizotinib treatment, but demonstrate sensitivity to second-generation ALK inhibitors such as #Brigatinib and #Ceritinib, which are currently approved for the treatment of metastatic lung cancers (Sullivan I et al., Ther Adv Med Oncol 2016).

Integration of NGS genetic profiling of tumour samples could play a beneficial role in the management of ALK mutated NSCLCs in India by helping identify the best targeted therapy among Brigatinib, Ceritinib and Crizotinib upfront, based on the mutational profile.




Building Genotype-Phenotype Correlation Data for Lung Cancer in India

Sapien is curating real world data for the lung cancer cases in the biobank. While 90-95% of our NSCLC samples are biopsies which are mostly exhausted in patient diagnosis and subsequent clinical #biomarker evaluation, the resection samples are being characterized genomically in Oncomine panel to correlate the demographic, diagnostic, treatment and outcomes data with genetic mutations.
The first of such 48 cases showed a very high number of SNVs (479), CNVs (5), Fusions (6) and indels (14). Highest number of mutations were observed in KEAP1 (43.2% of all mutations), followed by STK11 (31.5% of all mutations).

1st August – World Lung Cancer Day – Focusing on Treatment for Lung Cancer

In recognition of #WorldLungCancerDay, It is important for everyone to learn about the #riskfactors for Lung cancer along with the importance of #earlydiagnosis through #screening and timely treatment to decrease #mortality.

In cancer care, different types of doctors often work together to create a patient’s overall treatment plan that combines different types of treatments. This is called a multidisciplinary team.

There are 5 main treatment options : i) Surgery, ii) #Radiationtherapy, iii) #Chemotherapy, iv) Targeted therapy   v) #Immunotherapy

#Surgery includes #Lobectomy, Wedge resection, Segmentectomy, #Pneumonectomy.

#Chemotherapy is the use of #drugs to destroy cancer cells, usually by keeping the cancer cells from growing, dividing, and making more cells. It has been shown to improve both the length and quality of life for people with lung cancer of all stages. Targeted therapy is a #treatment that targets the cancer’s specific genes, proteins, or the tissue environment that contributes to cancer growth and survival. This type of treatment blocks the growth and spread of cancer cells and limits damage to healthy cells. Immunotherapy, also called biologic therapy, is designed to boost the body’s natural defenses to fight the cancer. It uses material made either by the body or in a laboratory to improve, target, or restore immune system function.

showcase of Prostate cancer inventory at Sapien

Prostate cancer is the most common gender specific cancer. Prostate is the second leading site of cancer among males in large Indian cities like Delhi, Kolkata, Pune and Thiruvananthapuram, third leading site of cancer in cities like Bangalore and Mumbai. According to the Indian Council of Medical Research (ICMR) and various state cancer registries, prostate cancer is the second most common form of cancer among Indian males with an incidence rate of nine to 10 per 1,00,000 population, which is higher than Africa and other parts of Asia . Almost 75% of men diagnosed with prostatic cancer are 65 or older, but the tumors can be seen in younger adults and even in children and adolescents. Hence regular screening above the age of 60 must be done for the early signs. Early screening is the best possible way to prevent and to treat the cancer before it spreads. Screening is done by checking PSA levels, and/or MRI, Ultrasound or biopsy along with physical examination.

Sapien’s samples and real world data enables validation of a new Indian breast cancer test with high concordance to OncotypeDx test

In 2014, Sapien partnered with Oncostem Diagnostics to provide our curated breast cancer FFPE blocks and RWE 5 years treatment and recurrence outcome data to enable the validation of a new test to accurately determine the risk of recurrence in early stage breast ca patients. A key goal of the test was to identify patients at low risk that could avoid chemotherapy and its side-effects, a major benefit to #cancerpatients (see Sapien referenced in this & previous papers).


It’s gratifying to see their first test, canAssist Breast for hormone positive breast cancer patients, perform equivalent to the gold standard Oncotype Dx test, a more expensive and higher TAT for Indian patients.

Our deep collection of matched FFPE blocks and longitudinal RWE data to enable precision medicine tests has continued to grow, both in breast cancer (>10,000 cases), and in #colorectalcancer, #lungcancer, #oralcancer, #kidneycancer, #ovariancancer #glioma #liver cancers. Contact us at  queries@sapienbio.com

Sree Voleti of BioNest and UoH in a wide-ranging frank monsoon chat with Jugnu on why she chose to return to India, why an entrepreneur, why Sapien, why Apollo, why Hyderabad …. on the road less travelled