17

What is the history of Lynch Syndrome?

When was Lynch Syndrome discovered? What is the story of this discovery? Was it coincidence or not?

History of Lynch Syndrome

Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited genetic condition that increases the risk of developing certain types of cancer, particularly colorectal cancer. It is named after Dr. Henry T. Lynch, who first described the syndrome in the 1960s.



Historical Background:



The history of Lynch Syndrome dates back to the early 20th century when researchers began to notice a pattern of familial clustering of colorectal cancer cases. However, it was not until the 1960s that Dr. Henry T. Lynch, a gastroenterologist, made significant contributions to understanding the hereditary nature of the syndrome.



Discovery and Research:



In the 1960s, Dr. Lynch observed multiple cases of colorectal cancer occurring within families, suggesting a hereditary component. He conducted extensive research and identified a pattern of inheritance that differed from other known genetic conditions at the time. Dr. Lynch's groundbreaking work laid the foundation for further studies on the syndrome.



Identification of Genetic Mutations:



In the 1990s, advancements in genetic technology allowed researchers to identify specific genetic mutations associated with Lynch Syndrome. These mutations were found in genes responsible for DNA mismatch repair (MMR), a crucial mechanism that corrects errors in DNA replication. Mutations in MMR genes, such as MLH1, MSH2, MSH6, and PMS2, impair the body's ability to repair DNA damage, leading to an increased risk of cancer development.



Diagnostic Criteria and Guidelines:



Over time, diagnostic criteria and guidelines for Lynch Syndrome have been established to aid in its identification. In 1991, the Amsterdam Criteria were introduced, defining specific clinical criteria for diagnosing Lynch Syndrome. These criteria included a history of colorectal cancer in at least three relatives, one of whom is a first-degree relative of the other two.



Subsequently, the Revised Bethesda Guidelines were developed in 1997 to expand the criteria for identifying individuals who should undergo genetic testing for Lynch Syndrome. These guidelines consider factors such as age of cancer onset, multiple primary cancers, and the presence of certain histological features.



Impact on Cancer Prevention and Treatment:



The identification of Lynch Syndrome has had a significant impact on cancer prevention and treatment strategies. Individuals with Lynch Syndrome have a significantly higher risk of developing colorectal cancer, as well as other cancers such as endometrial, ovarian, gastric, and urinary tract cancers.



Screening and surveillance programs have been developed to detect cancer at an early stage or even prevent its development. Regular colonoscopies, starting at an earlier age and performed more frequently, are recommended for individuals with Lynch Syndrome to detect and remove precancerous polyps.



Genetic Counseling and Testing:



Genetic counseling plays a crucial role in the management of Lynch Syndrome. Individuals with a family history of Lynch Syndrome or those who meet the diagnostic criteria should consider genetic testing to identify specific mutations. Genetic counselors provide information about the risks, benefits, and limitations of testing, as well as guidance on screening and preventive measures.



Current Research and Future Directions:



Ongoing research continues to deepen our understanding of Lynch Syndrome. Scientists are investigating new genetic markers and refining diagnostic criteria to improve the accuracy of identifying individuals at risk. Additionally, advancements in targeted therapies and immunotherapies hold promise for more effective treatment options for individuals with Lynch Syndrome.



In conclusion, Lynch Syndrome has a rich history that spans several decades. Dr. Henry T. Lynch's pioneering work laid the foundation for our understanding of this hereditary condition. The identification of genetic mutations, development of diagnostic criteria, and advancements in cancer prevention and treatment have significantly impacted the lives of individuals with Lynch Syndrome and their families.


Diseasemaps
2 answers
The history of hereditary nonpolyposis colorectal cancer was first recognized formally in the literature by Henry Lynch in 1967. With advances of molecular genetics, there has been a transformation from clinical phenotype to genotype diagnostics. This has led to the ability to diagnose affected patients before they manifest with cancer, and therefore allow preventative surveillance strategies. Genotype diagnostics has shown a difference in penetrance of different cancer risks dependent on the gene containing the mutation.

Posted Sep 18, 2017 by Cathy 2500

History of Lynch Syndrome

Lynch Syndrome life expectancy

What is the life expectancy of someone with Lynch Syndrome?

4 answers
Celebrities with Lynch Syndrome

Celebrities with Lynch Syndrome

1 answer
Is Lynch Syndrome hereditary?

Is Lynch Syndrome hereditary?

6 answers
Is Lynch Syndrome contagious?

Is Lynch Syndrome contagious?

5 answers
Natural treatment of Lynch Syndrome

Is there any natural treatment for Lynch Syndrome?

1 answer
ICD9 and ICD10 codes of Lynch Syndrome

ICD10 code of Lynch Syndrome and ICD9 code

4 answers
Living with Lynch Syndrome

Living with Lynch Syndrome. How to live with Lynch Syndrome?

2 answers
Lynch Syndrome diet

Lynch Syndrome diet. Is there a diet which improves the quality of life of ...

3 answers

World map of Lynch Syndrome

Find people with Lynch Syndrome through the map. Connect with them and share experiences. Join the Lynch Syndrome community.

Stories of Lynch Syndrome

LYNCH SYNDROME STORIES
Lynch Syndrome stories
Last year, my father was diagnosed with rectal cancer.  He went through chemo and radiation, and then surgery to remove the tumor.  The pathology revealed he should have genetic testing performed, which showed he was positive for Lynch Syndrome wit...
Lynch Syndrome stories
Hi I still remember that fateful day my 3rd daughter has gone for a test for my the GP though was Irritable bowel syndrome and she was given the news it was Bowel cancer and she was 29 with a 4yrs old and a 1yr old. Her older sister came round and to...
Lynch Syndrome stories
I found out in 2014 that I had lynch syndrome by chance. I was found to have womb cancer but thankfully it was early stages and a full hysterectomy removed all the cancer. After speaking to the doctor about it all afterwards i mentioned that my sis...
Lynch Syndrome stories
Our journey begin with my mother being diagnosed with ovarian cancer when I was 20 about 22 yrs ago now. She had a tumor the size of a softball when it was finally found. She survived the ovarian cancer and started having cancerous colon polyps in ...

Tell your story and help others

Tell my story

Lynch Syndrome forum

LYNCH SYNDROME FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map