MedGenome and Kailash Cancer Hospital & Research Centre (KCHRC) in Goraj, Gujarat teamed up for a genetic study on a genetic mutation responsible for six members of a Gujarati family suffering from Familial Adenomatous Polyposis (FAP). This is a rare precancerous inherited condition accounting for 1-3% of cases of colorectal cancer.
 
The mutation was also found in four other members of the family, leaving them highly susceptible to developing FAP later in life. The first-of-its-kind genetic study, involved a 52-year-old patient, 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 indication of FAP.
 
On further investigation, it was found that five of the family members, aged 35-60 years, were afflicted with FAP. The presence of benign polyps, between 100 to 1,000 in number, appear in the colon and rectum of patients in their teenage years. If left untreated, the polyps gradually turn malignant giving rise to aggressive and often fatal colorectal cancer by the age of 40-50 years.
 
Since FAP is an inherited condition, MedGenome Labs together with KCHRC collected clinical data and blood samples from twenty five members of Paresh’s immediate and extended family ranging in ages 6-60 years. Genetic analysis of their blood samples revealed the mutation in the APC gene, including in four young individuals aged 6-23 years, who are not yet diagnosed with FAP.
 
According to Dr Arati Khanna Gupta, VP – R&D with MedGenome Labs, Bengaluru once family members had consented to share their clinical histories and blood samples, we at MedGenome used high throughput next generation sequencing (NGS) methods to look for the FAP causative mutant gene. Our analyses revealed the presence of a never-before-identified mutation in the APC gene in ten of the twenty five family members, six of whom had FAP.
 
“This genetic study is a breakthrough. Detection of this genetic mutation in a patient will enable us to identify individuals most vulnerable to FAP and colorectal cancer, and take preventive measures beforehand, helping bring down its incidence. Screening is the most effect way to prevent colorectal cancer. Every individual affected by colorectal cancer should undergo genetic analysis. 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,” stated Dr Rakshit Shah, surgical oncologist, Kailash Cancer Hospital & Research Centre.