The landscape of actionable genomic alterations in lung adenocarcinomas in India

Sapien Biosciences is excited to share our recently published article, titled “The Landscape of Actionable Genomic Alterations in Lung Adenocarcinomas in India,” in Frontiers in Genetics, section Genetics of Common and Rare Diseases.

Our retrospective study, involving 53 Indian Lung Adenocarcinoma patients and utilizing a targeted NGS panel of 46 cancer-relevant oncogenes, revealed pathogenic or likely pathogenic variants in 94% of cases. Notable findings include a high prevalence of TP53 (52.8%) and EGFR (50.9%) mutations, gender-based differences in genetic alterations, and the detection of clinically actionable variants in 79% of cases. These results emphasize the crucial role of NGS in uncovering actionable molecular alterations, enhancing our understanding of NSCLC’s molecular landscape, and facilitating personalized treatment for Indian patients based on their unique genetic profiles.

We extend our gratitude to the entire research team, collaborators @Thermo Fisher Scientific, @q-annie-hasan, @Dr Aruna Priya Kamireddy, and Frontiers in Genetics for helping us make this significant contribution to Indian genomics research possible.

Please find the link to our publication below:

Timeline of Precision Medicine in Breast cancer

The timeline of breast cancer care and therapy is marked by significant milestones that have transformed patient outcomes and the way we approach this devastating disease as shown in the figure here. From the pioneering mastectomy procedures of the late 19th century to the development of targeted therapies specifically blocking the drivers of breast cancer such as ER, PR, HER2 personalized medicine has come a long way in recent years. The diagnosis and therapy guidance of breast cancer has evolved now to 4 major subtypes with personalized treatment strategies that are tailored to individual patient’s tumour characteristics and aggressiveness.

Breakthroughs in chemotherapy, hormonal therapy, most recently immunotherapy, along with advances in surgical techniques to preserve the breast tissue, and improvement in radiation therapy have all contributed to significant progress in breast cancer treatment. In the last 20 years, multiple treatment options have emerged for recurred and metastatic breast cancer. The effectiveness of such targeted treatments is higher and it has fewer side-effects, so it improves the quality of life. Simultaneously, awareness of risk factors including the role of BRCA1/BRCA2 genes have led to more women understanding hereditary risk and the need for regular screening.

In recent years, Next-Generation Sequencing (NGS) has been a pivotal player, enabling comprehensive genome analysis and uncovering rare genetic mutations that can be the targets of new drugs. These breakthroughs have ushered in an era of personalized medicine enhancing the overall quality of care as well as long-term survival in breast cancer.

Diagnostic methods for breast cancer used in India

Breast cancer can be diagnosed through multiple tests, including a mammogram, self-examination, ultrasound, MRI and biopsy. If the doctor finds an area of concern on a screening test (a mammogram), or if the patient has symptoms that could mean breast cancer, then more tests need to be done in order to diagnose whether it is cancer or not. The most common symptom of breast cancer is a new lump or mass. Breast cancer is sometimes found after symptoms appear, but many women with breast cancer have no symptoms. This is why regular breast cancer screening is so important. Any change in breast should be checked by a physician.

Most widely used methods of diagnosis are as follows:
1) Mammograms : low-dose x-rays
2) Ultrasound (USG) : sound waves and their echoes to make computer pictures of the inside of the breast. It can show certain breast changes, like fluid-filled cysts, that can be harder to see on mammograms.
3) MRI : radio waves and strong magnets to make detailed pictures of the inside of the breast.
4) Biopsy including Core needle biopsy, FNAC, or Surgical biopsy: this is done when mammograms, or another imaging test, or a physical exam shows a breast change that may be cancer.
A biopsy is the only way to know for sure if it’s cancer.

Breast Cancer Mode of Detection in a Population-Based Cohort- 2022-

Tru-Cut Biopsy versus Fine Needle Aspiration Cytology in Diagnosis of Early Breast Cancer-2023

Fine-needle aspiration cytology versus core needle lymph node biopsy in axillary staging of breast cancer – 2022
Comparison of ultrasound and mammography for early diagnosis of breast cancer among Chinese women with suspected breast lesions: A prospective trial – 2022

Only a small minority of Breast Cancer Cases are currently Early Stage and Early Grade

As mentioned in our previous post, it is important to understand the Grade and Stage of #breastcancer to provide the best care for patients. Grade and Stage are linked to patient prognosis with Stage I cases having a >90% survival rate over 5 years.
At Sapien, we examined the Grade and Stage information available for our #biobank breast cancer cases. Grade was available for 6965 patients and Stage for 3415 patients, with missing information being filled in over time. Our distribution shows Grade 1 in only 9% cases, Grade 2 in 51%, and Grade 3 in 40% of cases. Stage II is the most prevalent at 55%, followed by Stage III at 28.4%, with early Stages 0 and I being only 13%. Our goal is to increase awareness of the importance of regular screening through breast self-examination and #mammograms to decrease cases being detected at later Grades and Stages.

Staging of Breast Cancer is Important

Advancements in #tumor biology and prognostic #biomarkers, such as the estrogen receptor (ER), progesterone receptor (PR), HER2/neu, and Ki-67, have empowered clinicians to understand why patients with similar stages have significantly different outcomes. The 8th edition of the American Joint Committee uses nine stages (0, IA, IB, IIA, IIB, IIIA, IIIB, IIIC, and IV) based on anatomical staging, taking into account the extent of the primary tumor (T), the status of the regional lymph nodes (N), and metastasis (M), and incorporates biomarkers (histologic grade, ER, PR, HER2 expression, and multigene panels) into the traditional anatomical TNM staging. The higher the number, the more advanced the cancer is.
Staging allows for a more precise and accurate stratification of patients, impacting survival outcomes, with >90% survival over 5 years in Stage I breast cancer (from SEER database).

In addition to Stage, knowing the Grade of cancer is also important, to identify patients at risk for adverse outcomes who may be eligible for (neo)adjuvant therapies. There are three grades of malignancy (Grades 1-3), based upon the differentiation of tubule formation, pleomorphism, and “hyperchromatosis” or mitotic nuclei. The higher the number, the more aggressive the cancer is.

Simply put, Staging means how big the cancer is and whether it has spread. Grading means how abnormal the cancer cells and tissue look under a microscope.

Matched Plasma and Tumor blocks Available from Consented Cancer Patients

Sapien’s #biorepository is expanding with the collection of fresh blood from cancer patients prior to surgery, with informed consent. The collection covers all organs, including #Breastcancer (>320 cases). The blood is processed to #plasma and #PBMCs or cell pellets. Matched #FFPE tumor blocks are also available. With 6 sites now, the #biobank is growing rapidly to enable #cancer ‘omics.

A detailed questionnaire captures risk factors, social history, demographics, pathological diagnosis and biomarkers. Patients are followed up for treatment and 5-year outcomes with respect to response, recurrence or metastasis, and overall survival.
To know more, please visit or write to

Sapien team at Grace Cancer run

Global Grace Cancer Run

The Sapien #biobank #Hyderabad team showed up with enthusiasm at the Grace Cancer Foundation fundraising event. Our team, along with family and friends, participated in the walk/run with full josh and walking shoes on. The well-organized event made it even more enjoyable.

Age distribution

Studies have shown that the risk for having breast cancer is due to a combination of factors. One of the main factors that influences the incidence of breast cancer is age, with the highest incidence rates being in older people. Most breast cancers are found in women who are 50 years or older.

The American Cancer Society (ACS) recommends mammograms for women at average risk as follows:
1) Age between 40 and 44 – option to start screening annually,
2) Age between 45 to 54 – mammogram recommended every year, and
3) Age between 55 and older – can switch to mammogram every other year, or continue annually.

Women who are at high risk for breast cancer (based on the risk factors of breast cancer posted on 5th October) should undergo a breast MRI and a mammogram every year, typically starting at age 30.

In the analysis of data from a sample size of 13,298 breast cancer cases from our biobank, we found that the mean age of the patients with breast cancer is 52, and the median is 56.

Detecting and diagnosing breast cancer early is the most effective way to reduce mortality rates. The emphasis on early detection of breast cancer is due to the significant impact it has on the survival rate. According to the ACS, the 5-year survival rates for localized breast cancer (cancer that has not spread beyond the breast) is 99%.

Yedjou CG et al., Adv Exp Med Biol. 2019, Ho PJ et al., Genet Med. 2023, Kang SY et al., J Breast Cancer. 2021, Co M et al., Cancer Treat Res Commun. 2020, Sinha S et al., J Surg Res. 2022

Risk factors associated with breast cancer

Several risk factors are implicated in developing #BreastCancer in young women. Factors associated with lifestyle choices, such as physical inactivity leading obesity, excessive alcohol consumption and smoking; genetic risk factors involving mutations of breast cancer susceptibility genes such as #BRCA1 and #BRCA2; reproductive risk factors, such as age of menstruation onset, menopause can contribute to development of breast cancer.

In a study of 552 Breast cancer patients from our biobank dataset, we analysed various risk factors through a detailed questionnaire from patients diagnosed with breast cancer and undergoing surgery.
In this analysis, we found 49% of cases undergoing surgery are obese, and 27% of cases with a familial or previous history of cancer. The other modifiable risk factors included: Hormonal replacement therapy, alcohol or smoking intake, oral contraceptives, excessive intake of processed foods and exposure to chemical carcinogens. None of the patients fell under the risk factor ‘Early menarche (<12 years)and Late menopause (> 55 years)’. Lifestyle modification will help in reducing the risk.


Breast Cancer (BC) has surpassed lung cancer as the leading cause of cancer incidence in the world, with an estimated 2.3 million new cases, representing 11.7% of all cancer cases, with women bearing the brunt of it.
In India, as per Globocan 2020 data, BC accounted for 13.5% (178,361) of all cancer cases and 10.6% (90,408) of all deaths. Over the last 26 years, the age-standardized incidence rate of BC in females has increased by 39.1%, observed in every state of India. It’s vital to raise awareness of BC, its risk factors, detection, and treatment for our national health.

References: Breast cancer in India: Present scenario and the challenges ahead, March 2022.