Cancer-causing BRCA Gene Mutations at Least Three Times More Prevalent in India Compared to Western Countries Reveals Study

150 150 Maria Kammerer

Strand Life Sciences today released the findings of their study on Hereditary Breast and Ovarian Cancer Cases in India – Study highlights that BRCA gene mutations are the primary cause of Hereditary Breast and Ovarian Cancer in India

July 14, 2017 | Bangalore, India

Strand Life Sciences, a leader in precision medicine diagnostics committed to empowering cancer and inherited disease care in India, today released the findings of their extensive retrospective research analysis conducted on Breast and Ovarian Cancer (BOC) patients in India, also published in the Journal of Human Genetics – a Nature group publication. Salient findings from the paper were released on the side lines of a research facility tour highlighting the latest technology available in India to decipher complex diseases such as cancer and various inherited genetic disorders.

Media visits Strand NGS laboratoryPrimary findings of the cases of Breast & Ovarian Cancer Patients from India, undertaken by Strand, indicates that prevalence of BRCA (BReast CAncer) gene mutations in the Indian population is at least three times higher than in the western world. “When the BRCA gene was initially identified in the 1990s as the reason for breast and ovarian cancer incidence by Dr. Mary-Claire King, a pioneer in Genomics, it wasn’t considered as a major threat worldwide. However, when data over the years on prevalence of Breast Cancer was collated, the BRCA gene mutations were found to be a key cause of cancer incidence across the globe. Keeping in mind the importance of population data for a non-communicable disease such as cancer, and its tremendous impact on healthcare, we have extended our preliminary study to include several hundred patients now, in order to obtain a comprehensive genetic profile of breast and ovarian cases in India”, said Dr. Sudhir Borgonha, Chief Medical Officer, Strand Life Sciences.

Secondly, 72% of the first degree relatives (parents, children, siblings) of cancer patients who underwent testing were found to be positive for the same mutation responsible for the cancer in the family. Therefore, it is recommended that relatives of a patient should be tested in order to be aware of their cancer risk predisposition, and to take required screening and preventive measures for timely diagnosis and cancer prevention. “We have seen Breast Cancer patients as young as 20 years of age. If a genomic profiling is done on these patients, we can understand if their cancer is hereditary, and advise other family members to be tested”, added Dr. Borgonha.

The third most important finding suggested that 20 percent of BRCA-positive Breast and Ovarian (BOC) patients displayed no family history of cancer. This means, that if a patient undergoes genetic testing on the basis of family history alone, diagnoses will be missed in 1 among 5 individuals. “In India, only a handful of studies have been conducted to determine the prevalence of inherited mutations in BOC patients. In order to gather extensive and accurate data, comprehensive studies examining a wider mutational spectrum of the high-risk Hereditary Breast and Ovarian Cancer (HBOC) genes, in addition to BRCA1/2, in individuals from different regions across India is required”, opined Dr. Vijay Chandru, Chairman & Managing Director, Strand Life Sciences.

The National Cancer Registry puts breast cancer as the most common cancer in women in India, accounting for 27 per cent of all cancers in women. As per recent estimations, 1 in every 28 Indian women is likely to develop breast cancer during her lifetime, and 1 in every two women newly diagnosed with breast cancer succumbs to the disease. “The burden of breast cancer on the Indian health-care system is increasing steadily; therefore, the need for cost-effective methods of early detection, screening, and surveillance are of utmost importance. Genetic profiling is a game-changer and a precise tool in medical science that can decode complexities of diseases, thereby paving the way for preventive and personalized healthcare”, said Dr Vijay Chandru.

Highlighting the need for improved diagnostic tools, the study determined that next-generation sequencing (NGS) based multi-gene panels increase the sensitivity of mutation detection, and help in identifying patients with high risk of developing cancer in comparison to sequential tests of individual genes. “New advances in genomic technologies, such as next-generation sequencing (NGS), allow the sequencing and analysis of multiple genes associated with a disease/cancer efficiently at a significantly lower cost as compared with the traditional methods”, said Dr. Satish Sankaran, Vice President – Clinical Operations & Laboratory Director – Clinical Lab, Strand Life Sciences.

As per the latest statistics published in the Asia Pacific Journal of Clinical Oncology, Breast Cancer has ranked as the number one cancer among Indian females with age adjusted rate as high as 25.8 per 100,000 women and mortality 12.7 per 100,000 women. The age adjusted incidence rate of carcinoma of the breast was found as high as 41 per 100,000 women for Delhi, followed by Chennai (37.9), Bangalore (34.4) and Thiruvananthapuram District (33.7). Projections for India suggest the number of breast cancer cases will likely go as high as 1,797,900 by 2020. At the facility tour, Dr. Vijay Chandru emphasised the fact that genetic tests for cancers as well as inherited disorders can now be performed in India, at a significantly lower cost without compromising on quality. This has effectively eliminated the need for sending tissue samples abroad for analysis, saving time and money for patients.

Genetic testing gives people the chance to learn if their breast cancer or their family history of breast cancer is due to an inherited gene mutation. The second most important advantage of genetic testing is its ability to enable physicians to personalise the treatment from patient to patient and assess the chances of cancer relapse. “Genetic Testing at Strand is customised for detection of all types of mutations, including larger genetic aberrations which perhaps can get missed at times even by other widely accepted conventional techniques”, added Dr. Satish Sankaran.


About Strand Life Sciences

Strand Life Sciences is a global genomic profiling and bioinformatics company established in 2000. Strand is a leader in precision medicine diagnostics, aimed at empowering cancer care and genetic testing for inherited diseases. Strand works with oncologists, pathologists, geneticists, and hospitals to enable faster clinical decision support for accurate molecular diagnosis, prognosis, therapy recommendations, and clinical trials. Strand’s lab in India is a CAP & NABL accredited NGS laboratory.


For more information, contact Genesis Burson Marsteller. Sanjeeta Saha +91 7829553828 | & Megha Saxena: +91-7406243227 |



Maria Kammerer

All stories by: Maria Kammerer