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ABOUT US
FAMILIAL CANCER CLINIC
AIIMS HBOC REGISTRY
Breast and Ovarian cancers rank the 1st and 3rd commonest cancers among women in India accounting for 2,00,000 new cases a year. 10-15% of these cancers are hereditary, i.e., occur in different generations of the same family due to mutations in genes like BRCA1, BRCA2, TP53, CHEK2, PALB2, RAD50, etc. Identification of these families by appropriate genetic testing gives a remarkable opportunity to save lives by “precision prevention”. Through proper surveillance and risk-reducing surgeries, we can prevent new cancers in these patients and their unaffected children, siblings, and other family members.
Recognizing these high-risk families is a huge unmet need in India where cancer genetic clinics are rare. Detecting mutations in one patient gives leads to the detection of unsuspected mutations in their unaffected family members, by cascade single-site testing. Thus, accurate testing is the key to the success of such precision prevention programs.
Next-generation sequencing technology is now available in India, and newer mutations and genes are being identified in the Indian population along with a huge number of VUS (variants of unknown significance). Indian genetic makeup is multi-ethnic, and it is expected that the spectrum and frequency of germline genetic mutations will be different from the west.
This is a registry of HBOC mutations that will collate, curate, and share the mutational profile of our HBOC patients along with their clinical, treatment, and outcome details in a deidentified manner via this website. The registry will also audit the prescription, acceptance, outcomes, and efficacy of the risk reduction approaches; both surgical and non-surgical. It will provide timely risk-reduction recommendations, continuous lifelong updates, follow-up, and surveillance reminders to high-risk individuals. It envisages setting up a shared online database of mutations in Indian patients which will improve reporting and decrease VUS rates.
The reference base of mutations and VUS set up by this registry will be accessible to all registered users and this will immediately improve the quality of reporting of multigene hereditary panel tests offered to Indian patients. It will also have a germline DNA repository ready for advanced research as technology advances. The Germline DNA repository will keep us in a “future-ready” mode so that whenever a new technology arrives in the future, we have the samples and clinical information ready to offer. Public awareness programs will be conducted under the aegis of this registry.
Mission
- To promote the identification of families with hereditary cancer
- To encourage the participation in surveillance programs of individuals at high risk.
- To ensure the continuity of lifelong surveillance examinations.
- To promote research, particularly in the improvement of surveillance protocols.
Specialization
- Hereditary Cancer Analysis
- Pre-Test Genetic Counselling
- Post Test Genetic Counselling
- Preservation of germline DNA for future research.
- Public awareness related to hereditary breast and ovarian cancers.
- Analyze and mitigate the anxiety and stress levels among patients and family members in HBOC families.
Goals
- To establish a registry of patients and families diagnosed with hereditary breast and/or ovarian cancers at AIIMS, New Delhi, and NCI-AIIMS, Jhajjar.
- To establish a repository of germline DNA of these patients.
- To establish an online database of germline mutations associated with HBOC in India.
- Record de-identified data of high-risk patients in a HIPAA-compliant system: Clinical details, pedigree, treatment, and survival outcomes.
- To give timely updates for screening to the patients and unaffected relatives with mutations (carriers).
- To organize public awareness programs to communicate the importance of recognizing HBOC in the population.
Meet Our Experienced & Dedicated Team
Dr. Raja Pramanik, Principal Investigator
Prof. SVS Deo, Co-Investigator
Dr. Neerja Bhatla
Dr. Ritu Gupta
Dr. Sanjay Thulkar
Dr. Ajay Gogia
Dr. Sachin Khurana
Dr. Atul Batra
Dr. Akash Kumar
Dr. Ashutosh Mishra
Dr. Babul Bansal
Dr. Seema Singhal
Dr. Ekta Dhamija
Dr. Aparna Sharma
Dr. Punit Kaur
Dr. Deepshi Thakral, Co-Investigator
Dr. Koushik Sinha Deb
Dr. D.N Sharma, Patron
Dr. Atul Sharma, Patron
Dr. Sameer Bakhshi, Patron
Dr. Sandeep R. Mathur, Patron
Dr. (Major) Mukurdipi Ray, Patron
Olufunmilayo I. Olopade, Advisors
Ranjit Manchanda, Advisors
Dr. Lalit Kumar, Advisors
Dr. Sunesh Kumar, Advisors