The genetic study involved a 52-year-old patient, Paresh (name changed), and his immediate and extended family of 25 people.
When the patient approached KCHRC with health issues including weight loss and changes in bowel movement, doctors conducted a colonoscopy which confirmed the presence of multiple polyps (an abnormal growth that could become cancerous) in his colon, an indication of FAP. On further investigation, it was found that five of Paresh’s family members, aged 35-60 years, were afflicted with FAP.
Genetic analysis of the blood samples collected from all 25 members of the family revealed a mutation in the Adenomatous polyposis coli (APC) gene, not only in all six FAP-diagnosed family members, but also in four young individuals (ages 6-23 years) who have not yet been diagnosed with FAP.
This observation has important clinical repercussions, as the four young individuals have a strong predisposition to developing polyps in later years and must therefore be kept under observation.
Mutations in the APC gene are commonly found in cases of FAP, causing the APC gene product to malfunction. Under normal conditions, APC is a tumour-suppressor gene which prevents uncontrolled growth of cells; a hallmark of cancerous tumours.
“The study underscores the power of genetic analysis in identifying individuals in the affected family at the risk of developing colorectal cancer, and saving lives through early detection and timely treatment,” said Dr. Arati Khanna Gupta, VP – R&D with MedGenome Labs, Bengaluru.
Dr. Rakshit Shah, Surgical Oncologist, Kailash Cancer Hospital & Research Centre (KCHRC), Vadodara said, “Every individual in a family or community affected by colorectal cancer should undergo genetic analysis – if they have APC gene mutation, it is likely they will develop the disease once they reach their 40’s.”
This approach involving genetic analysis, is vital not only in the early diagnosis and subsequent treatment of FAP, but could also be leveraged to play a role in cancer prevention.