Health Condition 1: C269- Malignant neoplasm of ill-definedsites within the digestive system
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, patient must meet all of the following criteria: (a) Patient has recently been diagnosed with a primary cancer or FFPE treated primary tumour biopsy is available from the archive for one of the following anatomical sites- small intestine, stomach, oesophagus, liver, pancreas and endometrium. (b) Patient must be alive at the time of tumour and whole blood sample collection. (c) First degree relatives of Lynch syndrome carriers with or without prior history of cancer are eligible to participate in the study. (d) All patients must sign an informed consent for participating in the study and undergoing whole exome sequencing.
Exclusion criteria
Exclusion criteria: A potential patient who meets any of the above inclusion criteria will be excluded from participation in this study if there is: (a) Unavailability of tumour or matched blood sample (b) A language barrier to understanding the procedure (c) No signed informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Estimate prevalence of MSI-high/ MMRd non-colorectal cancers and Lynch syndrome patients in the Indian population.Timepoint: 3 years | — |
Secondary
| Measure | Time frame |
|---|---|
| To develop an interactive tool which would calculate cumulative 10-year cancer risk for LS carriers with or without prior cancer history based on their age, gender, mutated MMR gene, lifestyle/ dietary factors and anatomical site of cancer.Timepoint: 3 years | — |
Countries
India
Contacts
Foundation for Research in Genetics and Endocrinology