What are genes?
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Genes are in every cell in our bodies. Genes are made of DNA, which gives instructions to cells about how to grow and work together. We have two copies of each gene in every cell—one from our mother and one from our father. When they work properly, some genes help keep cancer from developing. When these genes have mutations, they cannot repair mistakes that happen in DNA. The mistakes can let cancer develop.
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What is Lynch syndrome?
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Lynch syndrome is a genetic condition that raises the risk for
certain cancers. It passes down through families. Between 1 in 300 to 1 in 440 people are thought to have Lynch syndrome. Mutations
in any of these genes can cause Lynch syndrome: MLH1,
MSH2/EPCAM, MSH6, or PMS2. These are signs that a
person may have Lynch syndrome:
• Cancer at a young age such as colorectal or uterine
cancer before 50
• More than one kind of Lynch syndrome-related cancer
in the same person
• Several members on the same side of the family who
have had Lynch syndrome-related cancers
• Tumor testing that shows a high risk for Lynch
syndrome
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What cancer types are associated with Lynch syndrome?
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People with Lynch syndrome have a higher risk of getting
certain cancers than people who do not have it.
The most common cancers are colorectal, uterine, ovarian,
and stomach. The lifetime risk for different cancers
depends on which of these genes has a mutation. Lynch syndrome also raises the risk for getting these less
common cancers: brain and central nervous system, gall bladder, and bile ducts, pancreatic, sebaceous gland, small bowel, urinary tract. Some people with Lynch syndrome do not get cancer at
all. However, they can still pass the condition to their
children.
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What are the lifetime risk to develop some of the more common cancers associated with Lynch syndrome mutations in different genes?
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| Colorectal Cancer
| Uterine Cancer
| Ovarian Cancer
| Stomach Cancer
| No Lynch syndrome
| 4 in 100
(4%)
| 3 in 100
(3%)
| 1 in 100
(1%)
| Less than 1 in 100
(<1%)
| MLH1
| 46-61 in 100
(46-61%)
| 34-54 in 100
(34-54%)
| 4-20 in 100
(4-20%)
| 5-7 in 100
(5-7%)
| MSH2/EPCAM
| 33-52 in 100
(33-52%)
| 21-57 in 100
(21-57%)
| 3-38 in 100
(3-38%)
| up to 9 in 100
(up to 9%)
| MSH6
| 10-44 in 100
(10-44%)
| 16-49 in 100
(16-49%)
| up to 13 in 100
(up to 13%)
| up to 8 in 100
(up to 8%)
| PMS2
| 8-20 in 100
(8-20%)
| 13-26 in 100
(13-26%)
| 3 in 100
(3%)
| Unknown
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Where can I find more gene-specific information?
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EVENT PRESENTATIONS:
Presenter: Cathryn Koptiuch, CGC Talk: Back to Basics and Updated Cancer Risks
Presenter: Joanne Jeter, MD
Talk: Urothelial Cancers
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