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Kokilaben Dhirubhai Ambani Hospital (KDAH) has noted that nearly one in six patients tested for hereditary gastrointestinal cancer mutations at carries Lynch syndrome, a hereditary condition linked to colorectal and endometrial cancers.
International literature has long estimated that Lynch syndrome accounts for roughly 5-8% of colorectal cancer cases worldwide. New four-year data from the hospital’s Genetic Registry puts the figure at 15.5% among patients tested at KDAH, almost three times higher, a finding doctors say could point to a hereditary cancer risk that is significantly under-recognised and under-screened among Indian patients more broadly.
The findings emerge from 780 cancer patients screened for inherited mutations at the hospital’s Hereditary Cancer Clinic over four years. Of these, 284 patients were tested for gastrointestinal cancer-linked mutations, and 44 — 15.5% — tested positive. Separately, 495 patients were tested for hereditary breast and ovarian cancer (HBOC) mutations linked to the BRCA1 and BRCA2 genes, of whom 103, or nearly 21%, tested positive. Taken together, close to one in five patients screened across both cohorts carried a pathogenic inherited mutation.
The data comes from the hospital’s Genetic Registry, developed under its Empowering Families by Genetic Testing (EFGT) initiative and integrated with the secure REDCap data platform, linking genetic findings with clinical history and treatment outcomes. A key insight so far: HBOC and Lynch syndrome together account for nearly 90% of all hereditary cases tested and recorded, including both positive and negative results — making them, by a wide margin, the two most significant hereditary cancer syndromes affecting patients evaluated at the hospital.
Dr. Amrit Kaur Kaler, consultant, molecular pathology, Kokilaben Dhirubhai Ambani Hospital, Mumbai, said, “Lynch syndrome is one of the most significant, and most overlooked, genetic drivers of hereditary cancer we are seeing in Indian patients. A genetic registry allows us to move beyond looking at cancer as an isolated disease in one individual. When we combine genetic information with family history, treatment and outcomes, we begin to see patterns that have implications for an entire family. This reinforces why identifying patients who may benefit from genetic evaluation, and building awareness around it, must become a healthcare priority.”
Dr. Manoj Mulchandani, consultant, general laparoscopic and robotic colorectal surgeon, Kokilaben Dhirubhai Ambani Hospital, Mumbai, added, “Any new diagnosis of GI cancer below 50 or any family with a family member with cancer diagnosis below 50 years should undergo Genetic testing.”
The registry also supports precision oncology treatment data. Tumour, or somatic, testing examines genetic changes within a cancer itself, helping oncologists determine which combination of targeted therapy, immunotherapy or chemotherapy is likely to work best for a specific patient.
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