Chandrika Kurpad , MS, LGCG - CGA-IGC Communications Committee
In a groundbreaking study published in Gastroenterology, researchers detail the remarkable 50-year journey of a family with Lynch syndrome, showcasing the transformative power of genetic testing and preventive care in hereditary cancer.
The Mystery Begins
In the early 1970s, Dr. C. Richard Boland encountered a family with an unusual pattern of colorectal and other cancers. This was before Lynch syndrome was widely recognized, and there was considerable skepticism about hereditary colorectal cancer that wasn't associated with polyposis.
Unraveling the Genetic Puzzle
The breakthrough came in the 1990s when Lynch syndrome was linked to defects in DNA mismatch repair genes. However, identifying the specific mutation in this family proved challenging. It wasn't until 2001 that researchers, using innovative techniques like "panhandle PCR," identified a large deletion in the MSH2 gene responsible for the family's cancer predisposition.
A Test That Changed Everything
With the mutation identified, researchers developed a specific genetic test for this family. This marked a turning point in their story:
In the earlier generations (I-III), 91% (10 out of 11) of those presumed to have Lynch syndrome died from related cancers.
In contrast, among generations IV-V, only 18% (3 out of 17) of those with known or presumed Lynch syndrome died from related cancers.
Importantly, two of these three deaths occurred in individuals who either didn't have access to testing or declined it.
The Power of Prevention
Armed with genetic information, family members could now take proactive steps:
Regular colonoscopies every 1-2 years.
Preventive surgeries for women, such as hysterectomies.
Early detection of cancers, leading to successful treatments.
The result? A disease that was once almost always lethal in this family has been largely. tamed.
Beyond One Family
While this study focuses on a single family, its implications are far-reaching:
It demonstrates the life-saving potential of genetic testing and surveillance in hereditary cancer syndromes.
It highlights the importance of family history and long-term follow-up in understanding genetic diseases.
The study showcases how persistence in medical research can lead to breakthroughs that dramatically improve patient outcomes.
Lessons for the Future
This family's story teaches us valuable lessons:
The importance of challenging conventional wisdom in medicine.
The power of multidisciplinary collaboration in solving complex medical puzzles.
The invaluable nature of biospecimen collections for long-term research.
The profound impact that participating in medical research can have on future generations.
As we look to the future of precision medicine and genetic testing, stories like this remind us of the very real, very human impact these advances can have. For this family, understanding their genetic risk has quite literally been the difference between life and death.
Source:
Yurgelun MB, Rhees J, Papadopoulos N, Vogelstein B, Boland CR. Taming Lynch Syndrome: The Remarkable Power of Prevention for One Family. Gastroenterology. 2024. DOI: https://doi.org/10.1053/j.gastro.2024.06.037
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