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This research will help us create specific genetic tests for inherited cancers in Indian children.

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. - C2G2L

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2025/07/091833
Enrollment
1815
Registered
2025-07-28
Start date
Unknown
Completion date
Unknown
Last updated
2026-06-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: C81-C96- Malignant neoplasms of lymphoid, hematopoietic and related tissue Health Condition 2: C729- Malignant neoplasm of central nervous system, unspecified Health Condition 3: C717- Malignant neoplasm of brain stem Health Condition 4: C715- Malignant neoplasm of cerebral ventricle Health Condition 5: C74- Malignant neoplasm of adrenal gland

Interventions

Intervention1: Nil: Nil Intervention2: Nil: Nil Control Intervention1: Nil: Nil

Sponsors

Dr Rajiv Sarin
Lead Sponsor
Centre of Advanced Research Grant from Indian Council for Medical Research
Collaborator

Eligibility

Inclusion criteria

Inclusion criteria: 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

Exclusion criteria

Exclusion criteria: Incomplete or inconclusive histological, cytogenetic or molecular examination needed to establish an unequivocal diagnosis of cancer and its subtype

Design outcomes

Primary

MeasureTime frame
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.Timepoint: 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

MeasureTime frame
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 survivalTimepoint: Throughout treatment and follow-up; final analysis at study end.

Countries

India

Contacts

Public ContactDr Rajiv Sarin

Tata Memorial Centre

rsarin@actrec.gov.in9820313789

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Jun 29, 2026