Genetic Screening Saves 30-Year-Old Israeli Man from Advanced Cancer
A 30-year-old Israeli man whose Lynch syndrome was detected through the national Mosaic genetic research project successfully underwent lifesaving surgery after doctors discovered an early cancerous polyp during a follow-up colonoscopy.
Genetic screening has saved the life of a 30-year-old Israeli man, identified only as Amit, after a routine participation in the national "Mosaic" project uncovered Lynch syndrome and an early-stage cancerous polyp.
Nearly two years ago, Amit visited Rabin Medical Center (Beilinson) for an allergy consultation. On his way out, he was invited to join the Mosaic project, a large-scale research initiative conducting genetic sequencing to identify medically significant mutations. "I figured, why not?" Amit recalled. "Both my mother and I took the test. They told us they would call if they found anything, and then I simply forgot about it."
Discovery Through Family History
Independently of the Mosaic screening, Amit's father began undergoing genetic evaluations following a family history of gastrointestinal cancer; Amit's grandfather had passed away from the disease at age 46. Last February, tests confirmed that Amit's father carries a genetic mutation associated with Lynch syndrome, a hereditary condition that significantly increases the risk of developing certain cancers, particularly colorectal and uterine cancer.
Realizing he needed to be tested as well, Amit contacted medical authorities. However, before he could arrange the screening independently, he received an unexpected phone call. About a month after his father's diagnosis, researchers from the Mosaic project reached out.
"I told them I knew what Lynch syndrome was because of my father," Amit said. "They informed me that their sequencing also showed I carry the mutation."
Early Detection and Lifesaving Surgery
Shortly after receiving the news, Amit consulted with Prof. Zohar Levi, director of the Gastrointestinal High-Risk Service at Beilinson, part of the Clalit Health Services group. Prof. Levi immediately recommended a series of preventive examinations, starting with a colonoscopy.
"Lynch syndrome is a hereditary condition where genetic variations elevate susceptibility to malignancies, often at a young age," Prof. Levi explained. For Amit, the timing proved critical. "We found a very large, advanced polyp in the colon. Although it was successfully removed by the advanced endoscopy team, subsequent pathology revealed that a cancerous tumor had already begun developing inside it."
Amit was urgently referred for surgery to ensure the malignancy had not spread. According to Prof. Levi, the procedure successfully completed the treatment, sparing him from further aggressive interventions. "Had we not performed the colonoscopy in time, Amit could have returned in six months or a year with metastases. That would have been an entirely different situation."
The Mosaic Project: Impact and Scope
Prof. Gabi Barbash, who leads the Mosaic project, noted that Amit's case is part of a broader, vital public health effort. To date, approximately 60,000 Israelis have joined the initiative. Approximately 3% of the population carries one of the targeted genetic variations monitored by the program.
"We focus on genetic changes that currently offer actionable medical pathways—through surveillance, early detection, or targeted treatments," Prof. Barbash stated. About half of the evaluated genes relate to increased risks of malignancies, while the other half pertain to cardiovascular conditions and lipid disorders. Before delivering any significant positive result, researchers verify the finding using a secondary saliva sample to ensure absolute accuracy.
Reflecting on his ordeal, Amit expressed profound gratitude. "Physically, I feel normal now, aside from the surgical scars. Mentally, I am still processing everything. I never expected to be in oncological follow-up at age 30 due to a cancerous tumor. But thanks to genetic testing, I received my life as a gift."
