Tag Archive for: RWE

Some driver RET mutations are not observed in Indian cancers

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The impact of two driver mutations of RET gene, V804M/L and S891A, on Thyroid cancer was described recently by Pichardo et al in JAMA Otolaryngology, 2023. In a population screening, 75 people were identified to have 2 Pathogenic or Likely Pathogenic (P/LP) germline variants of the RET gene. 20 out of these 75 patients chose to undergo prophylactic thyroidectomy even though they did not have any symptoms of cancer. After surgery, pathological analysis of their tissue detected the growth of medullary or papillary thyroid cancer (PTC) in 12 and 2 patients respectively, i.e., 70% of patients with these 2 mutations had been harboring cancer unknowingly!
We examined the presence of these 2 RET variants in Sapien’s 61 Indian thyroid cancer samples profiled in the OncoMineDx panel by ThermoFisher. P/LP mutations were seen in 4 cases, all below the age of 40. Three cases were PTCs and 1 Follicular, with an overall percentage of 6%. The variants detected were V804M/L (3 cases) and C618Y (1 case, Follicular). No case of S891A mutation was detected.
We also checked for RET mutations in our genetically profiled lung cancers (103 cases) where 28 cases had SNVs with 5 cases of V804M, and 1 case had a fusion. No case of S891A was observed. Similarly, among 449 breast cancers, 280 CRCs, 47 gliomas and few cases each of endometrium, urinary bladder and prostate cancers that have been genetically profiled, many cases of V804M/L and other P/LP RET mutations were observed but none of S891A.

May is Brain cancer awareness month

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According to Global Cancer Observatory (www.gco.iarc.fr), #braincancer contributed to 2.4% of all cancers in India during 2020. They ranked 14th in the number of cases (31,460), but 10th in the number of deaths (26656) due to cancers in 2020.
To tackle this deadly cancer, Sapien has collated FFPE blocks, flash frozen #tissue, live primary cells from many #braintumors to enable #drugscreening, validation of new #drugtargets and #glioma #biomarkers.
We will be sharing our brain cancer research and resources through May, starting with this slide on our #FFPE blocks with matched #RWE data from 1 of our many hospitals.

www.indiancancersociety.org; www.cancer.gov/types/brain;

Colorectal cancer Awareness – Choice of surgery

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Colorectal cancer, also known as bowel cancer, colon cancer, or rectal cancer, is any cancer that affects the colon and the rectum. The American Cancer Society estimate that about 1 in 21 men and 1 in 23 women in the United States will develop colorectal cancer during their lifetime. It is the second leading cause of cancer death in women, and the third for men. However, due to advances in screening techniques and improvements in treatments, the death rate from colorectal cancer has been falling. Colorectal cancer may be benign, or non-cancerous, or malignant. A malignant cancer can spread to other parts of the body and damage them.

Colorectal cancer Awareness – Preventable, Treatable, Beatable

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Colorectal cancer, also known as bowel cancer, colon cancer, or rectal cancer, is any cancer that affects the colon and the rectum. The American Cancer Society estimate that about 1 in 21 men and 1 in 23 women in the United States will develop colorectal cancer during their lifetime. It is the second leading cause of cancer death in women, and the third for men. However, due to advances in screening techniques and improvements in treatments, the death rate from colorectal cancer has been falling. Colorectal cancer may be benign, or non-cancerous, or malignant. A malignant cancer can spread to other parts of the body and damage them.

Mutations in Lung Cancer Driving Targeted Therapy

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In recent years, personalized medicine has begun to bring new hope to people with lung cancer, especially non-small cell lung cancer. Personalized medicine involves looking at the cells obtained from a biopsy to see if there are any genetic mutations — changes in your genes — that could be linked to the type of cancer you have. Because certain chemotherapy drugs are either more or less effective than others against tumors with specific mutations, molecular analysis of your tumor, also called genomic testing, can help determine which therapies will be most likely to benefit you. The most common genetic changes that are tested for in lung cancer are in the genes EGFR, ALK, ROS, PDL 1 and KRAS.

Lung Cancer Surgeries – A rare route of hope

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Treatment options and recommendations for lung cancer depend on several factors, including the type and stage of cancer, possible side effects, and the patient’s preferences and overall health. There are 5 main ways to treat lung cancer : Surgery, Radiation therapy, Chemotherapy, Targeted therapy, Immunotherapy. The goal of surgery is to completely remove the lung tumor and the nearby lymph nodes. The following types of surgery may be used in non small cell lung cancer, aka NSCLC: Lobectomy, A wedge resection, Segmentectomy, Pneumonectomy.

Metastatic Lung Cancer-Finding cure starts with awareness

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Having lung cancer or a history of lung cancer, is the cause for lung cancer metastases. Cancer that metastasizes to the lungs is a life-threatening condition that develops when cancer in another area of the body (primary organ such as breast), spreads to the lung. Prevention of metastatic lung cancer can be done by avoiding the risk factors of primary lung cancer such as smoking or chewing tobacco, or prompt and successful treatment of your primary cancer. Awareness, early detection and timely treatment are vital for preventing the spread of lung cancer.

October is Ovarian cancer awareness month also

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All female cancers are not PINK. Ovarian cancer is the seventh most common cancer in women worldwide. In India, it is the 3rd leading site of cancer in women. Ovarian cancer is usually diagnosed at late stages, hence disease-free and long term survival is low. This month is devoted to raising awareness for breast and ovarian cancers and get them diagnosed at an early stage to improve treatment outcomes.

The largest category of breast cancers are hormone receptor (HR) positive. These comprise 55-60% of all breast cancers globally as well as in India. Unlike triple negative breast cancer (TNBC), HR positive breast cancers respond well to personalized treatment with newer drugs and have a high chance of successful treatment and long-term survival even in advanced stages. Hence it is important to get them diagnosed and typed for HR positivity early on and tailor the treatment for each patient.

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20-30% of patients with potentially curable breast cancer develop metastasis, denying breast cancer samurais the high quality and length of life. We need to dedicate ourselves to understanding the molecular mechanism underlying Metastatic Breast Cancer which will help identify personalized screening and treatment approaches to fight metastasis

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