| CTRI Number |
CTRI/2025/07/091833 [Registered on: 28/07/2025] Trial Registered Prospectively |
| Last Modified On: |
26/07/2025 |
| Post Graduate Thesis |
No |
| Type of Trial |
Observational |
|
Type of Study
|
Prospective Multi-center Observational study |
| Study Design |
Other |
|
Public Title of Study
|
This research will help us create specific genetic tests for inherited cancers in Indian children. |
|
Scientific Title of Study
|
Whole Exome and Genome analysis to define Childhood Cancer Germline Genomic Landscape, identify new cancer predisposition genes, and develop, validate India-specific multigene panels for inherited paediatric cancers. |
| Trial Acronym |
C2G2L |
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| NIL |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Dr Rajiv Sarin |
| Designation |
In-Charge, Cancer Genetics Unit, Professor Radiation Oncology & Principal Investigator, SARIN Lab |
| Affiliation |
Tata Memorial Hospital and ACTREC |
| Address |
Cancer Genetics Clinic, Tata Memorial Hospital, Parel, Mumbai.
Mumbai
MAHARASHTRA
400012
India |
| Phone |
9820313789 |
| Fax |
|
| Email |
rsarin@actrec.gov.in |
|
Details of Contact Person
Scientific Query
|
| Name |
Dr Rajiv Sarin |
| Designation |
Office In Charge Cancer Genetics Clinic, Professor, Radiation Oncology. |
| Affiliation |
Tata Memorial Centre |
| Address |
Tata Memorial Hospital, Parel, Mumbai.
Mumbai
MAHARASHTRA
400012
India |
| Phone |
9820313789 |
| Fax |
|
| Email |
rsarin@actrec.gov.in |
|
Details of Contact Person
Public Query
|
| Name |
Dr Rajiv Sarin |
| Designation |
Office In Charge Cancer Genetics Clinic, Professor, Radiation Oncology. |
| Affiliation |
Tata Memorial Centre |
| Address |
Tata Memorial Hospital, Parel, Mumbai.
Mumbai
MAHARASHTRA
400012
India |
| Phone |
9820313789 |
| Fax |
|
| Email |
rsarin@actrec.gov.in |
|
|
Source of Monetary or Material Support
|
| Center for Advance Research Grant from Indian Council for Medical Research |
|
|
Primary Sponsor
|
| Name |
Dr Rajiv Sarin |
| Address |
Office In charge, Cancer Genetics Clinic, Professor, Radiation
Oncology, Tata Memorial Hospital, Parel, Mumbai-400012 |
| Type of Sponsor |
Research institution and hospital |
|
|
Details of Secondary Sponsor
|
| Name |
Address |
| Centre of Advanced Research Grant from Indian Council for Medical Research |
V. Ramalingaswami Bhawan, P.O. Box No. 4911
Ansari Nagar, New Delhi - 110029, India |
|
|
Countries of Recruitment
|
India |
|
Sites of Study
|
| No of Sites = 8 |
| Name of Principal
Investigator |
Name of Site |
Site Address |
Phone/Fax/Email |
| Dr Vasudeva Bhat K |
Kasturba Medical College and Kasturba Hospital |
Room-1, Department of Pediatric Oncology,
Ground floor, Women and Child block,
Tiger Circle Road, Madhav Nagar, Eshwar Nagar, Manipal, Karnataka Pin-576104.
Udupi
KARNATAKA |
9619114703
vasudev.bhat@manipal.edu |
| Prof Venkataraman Radhakrishnan |
Cancer Institute (WIA) |
Department of Medical Oncology, office 3rd floor, union bank building
Dr S Krishnamurti Campus
Cancer Institute
38 Sardar Patel Road
Cancer Institute
Chennai.Pin-600036
Chennai
TAMIL NADU |
9498082771
venkymd@gmail.com |
| Prof Munlima Hazarika |
Dr. B. Borooah Cancer Institute |
Department of Medical and Pediatric Oncology,
Gopinath Nagar, A K Azad Road
Guwahati, Assam. Pin-781016
Kamrup
ASSAM |
9864043056
drmunlimahazarika@gmail.com |
| Dr Raghwesh Ranjan |
Homi Bhabha Cancer Hospital |
Pediatric oncology division,
Ground floor. OPD number 1
Old loco colony,Shivpurwa
Ghanti mill road
Varanasi 221010
Varanasi
UTTAR PRADESH |
9660417130
raghavranjan007@gmail.com |
| Dr Swetha Venkatareddy Velagala |
Homi Bhabha Cancer Hospital and Research Centre |
Room no 50
Dept of Pediatric Oncology
Ground floor
Main building
Behind Varun Motors
Aganampudi
Gajuwaka mandalam
Visakhapatnam. Pin-530053
Visakhapatnam
ANDHRA PRADESH |
9611341809
drvswethareddy@gmail.com |
| Dr Sandeep Jain |
Rajiv Gandhi Cancer Institute and Research Centre |
Room No - 3075
Ground Floor, D block
Pediatric Hematology Oncology Department, Sector-5 , Sir chotu Ram Marg, Rohini , Delhi - 110085
North West
DELHI |
9868773664
doctorjainsandeep@yahoo.co.in |
| Dr Kalasekhar VS |
Regional Cancer Centre |
2nd floor, B block
Department of Pediatric Oncology
Medical college campus
Thiruvananthapuram
Kerala. Pin-695011
Thiruvananthapuram
KERALA |
9495341052
kalasekhar@gmail.com |
| Dr Rajiv Sarin |
Tata Memorial Hospital |
Cancer Genetics Clinic, Department of Radiation Oncology, 3rd Floor, Homi Bhabha, Dr. Ernest Borges Road. Parel, Mumbai. Pin-400012
Mumbai
MAHARASHTRA |
9820313789
rsarin@actrec.gov.in |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 9 |
| Name of Committee |
Approval Status |
| Institutional Ethics Committe, Cancer Institute (W.I.A) – Dr. S. Krishnamurthi Campus 38 Sardar Patel Road, Chennai 600036. |
Submittted/Under Review |
| Institutional Ethics Committee Dr. B Borooah Cancer Institute, Guwahati |
Submittted/Under Review |
| Institutional Ethics Committee, Homi Bhabha Cancer Hospital and Research Centre, Visakhapatnam, Andhra Pradesh |
Submittted/Under Review |
| Institutional Ethics Committee, Rajiv Gandhi Cancer Institute and Research Centre, Delhi |
Submittted/Under Review |
| Institutional Ethics Committee, Kasturba Medical College, Manipal, Karnataka |
Submittted/Under Review |
| Institutional Ethics Committee, Mahamana Pandit Madan Mohan Malaviya Cancer Centre (MPMMCC) & Homi Bhabha Cancer Hospital (HBCH), Varanasi |
Submittted/Under Review |
| Institutional Ethics Committee, Regional Cancer Centre, Thiruvananthapuram, Kerala |
Submittted/Under Review |
| Institutional Ethics Committee-I, IEC Ofiice, Dr E Borges Marg, Parel East, Mumbai 400012 |
Approved |
| Institutional Ethics Committee-I, IEC Ofiice, Dr E Borges Marg, Parel East, Mumbai 400012 |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Patients |
(1) ICD-10 Condition: C81-C96||Malignant neoplasms of lymphoid, hematopoietic and related tissue, (2) ICD-10 Condition: C729||Malignant neoplasm of central nervous system, unspecified, (3) ICD-10 Condition: C717||Malignant neoplasm of brain stem, (4) ICD-10 Condition: C715||Malignant neoplasm of cerebral ventricle, (5) ICD-10 Condition: C74||Malignant neoplasm of adrenal gland, |
|
|
Intervention / Comparator Agent
|
| Type |
Name |
Details |
| Intervention |
Nil |
Nil |
| Comparator Agent |
Nil |
Nil |
|
|
Inclusion Criteria
|
| Age From |
1.00 Year(s) |
| Age To |
18.00 Year(s) |
| Gender |
Both |
| Details |
1. Age at first cancer diagnosis less than equal to 18 years
2. Histopathologically confirmed cancer diagnosis
3. Patients in whom tumour biopsy is not possible or mandatory due to location or nature of tumour (such
as brain stem or optic pathway glioma, intraocular tumours or specific liver or germ cell tumors) should
have an unequivocal diagnosis of a specific cancer based on pathognomonic Clinico Radiological
features including or excluding elevated tumor markers.
4. Diagnosed with primary, second primary or relapsed cancer in the previous 6 months, with exceptions
made to include rare cancers like choroid plexus carcinoma, adrenocortical carcinoma at any time from
diagnosis.
5. Parents or patients (more than 18 years) informed consent for the study |
|
| ExclusionCriteria |
| Details |
Incomplete or inconclusive histological, cytogenetic or molecular examination needed to establish an
unequivocal diagnosis of cancer and its subtype |
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
| To study the prevalence and spectrum of pathogenic germline mutations in cancer predisposition genes in 3 distinct groups of childhood cancer (CNS, Haematolymphoid, and Pediatric solid tumours) not selected for family history or syndromic features. |
Post-enrollment, typically after the sample is processed and results reported. Sampling is expected within the study duration after whole exome sequencing/whole genome sequencing. Survival will be calculated at the end of study period from the time of primary malignancy diagnosis (for relapse patients in the study, from the date of diagnosis of first malignancy) to the occurrence of relapse, progression, death, or the occurrence of second malignant neoplasm or last follow up if no events occur |
|
|
Secondary Outcome
|
| Outcome |
TimePoints |
1. Based on the frequency of germline mutation in different CPS genes, develop and validate new targeted multigene panels
2. Identify and validate new CPS Genes
3. To study the genotype-phenotype correlation of pathogenic variants in specific genes and gene spectrum in specific cancer subtypes
4. Identify any hotspot or founder germline mutation in various Geo-ethnic groups in India and the prevalence of such mutations in distinct population groups
5. Compliance for cascade testing in families with an identified mutation, identifying barriers for noncompliance & developing strategies to overcome these
6. Compliance for high-risk screening and prevention recommended to mutation carriers, identifying barriers for noncompliance & developing strategies to overcome these
7. Correlation of germline variants in specific genes with clinical outcome - response, acute and late toxicity to specific drugs and radiation; event-free and overall survival |
Throughout treatment and follow-up; final analysis at study end.
|
|
|
Target Sample Size
|
Total Sample Size="1815"
Sample Size from India="1815"
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" |
|
Phase of Trial
|
N/A |
|
Date of First Enrollment (India)
|
06/08/2025 |
| Date of Study Completion (India) |
Applicable only for Completed/Terminated trials |
| Date of First Enrollment (Global) |
Date Missing |
| Date of Study Completion (Global) |
Applicable only for Completed/Terminated trials |
|
Estimated Duration of Trial
|
Years="5"
Months="0"
Days="0" |
|
Recruitment Status of Trial (Global)
|
Not Yet Recruiting |
| Recruitment Status of Trial (India) |
Not Yet Recruiting |
|
Publication Details
|
N/A |
|
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
Response - NO
|
|
Brief Summary
|
This study aims to investigate genetic risk factors in childhood cancers by analyzing the DNA of 2,500
pediatric cancer patients from nine major oncology centers across India. Whole Exome Sequencing
(WES) will be performed on all cases, which is a technique that examines only the protein-coding regions
of genes (about 1-2% of the entire genome) where most disease-causing mutations are found. This is done
by extracting DNA from a blood sample, preparing it in a lab to isolate these specific regions, and then
using advanced machines to "read" the genetic code. In 300 selected cases, a more detailed analysis called
Whole Genome Sequencing (WGS) will be conducted, which examines the entire genetic material of a
person, including both protein-coding and non-coding regions. WGS helps identify mutations that might
be missed by WES, such as structural changes in DNA.
The genetic variations found will be classified according to internationally recognized guidelines to
determine whether they are harmful or harmless. If a harmful mutation is identified, family members will
also be tested to check if they carry the same inherited genetic change. Based on these findings, the study
will develop and validate cost-effective, targeted multigene panels, which are smaller, customized genetic
tests that focus only on the key cancer-related genes, making them more affordable and practical for
routine use in India.
Families of affected children will receive genetic counseling, where experts will explain the test results,
discuss potential cancer risks, and guide them on further monitoring or preventive measures. To ensure
that more families benefit from these findings, strategies will be tested to improve participation in genetic
screening and high-risk cancer monitoring programs. If certain mutations are found to be more common
in specific ethnic groups, the study will also explore whether newborn screening for these mutations is
feasible to help detect risks early in life.
The results of this study will help personalize cancer treatment for children, contribute to national
guidelines for genetic testing, and improve long-term care strategies for affected families. Throughout the
study, strict ethical guidelines and confidentiality measures will be followed to protect patient data and
privacy. |