domingo, 14 de marzo de 2010

Lynch Syndrome EGAPP Recommendation



Genetic Testing
Lynch Syndrome EGAPP Recommendation


Background
Approximately 3% of people who develop colorectal cancer have an inherited condition known as Lynch syndrome. This condition is also referred to as hereditary nonpolyposis colorectal cancer or HNPCC. People with Lynch syndrome have a greatly increased chance of developing colorectal cancer, especially at a young age (under 50). Close biological relatives (parents, children, sisters, brothers) of people with Lynch syndrome have a 50% chance of inheriting this condition. Other close relatives, such as grandparents, aunts, uncles, cousins, nieces and nephews, are also at increased risk to have Lynch syndrome. If an individual is found to carry a genetic change (mutation) associated with Lynch syndrome, his/her relatives can be tested to determine if they also carry the mutation. Relatives found to have a Lynch syndrome gene mutation can lower their chance of developing or dying from colorectal cancer by having earlier and more frequent colonoscopies.

1. http://www.cdc.gov/genomics/gtesting/EGAPP/recommend/lynch.htm


"The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined."

2. http://www.egappreviews.org/docs/EGAPPWG-LynchRec.pdf


EGAPP™ Recommendation Statement
Official EGAPP™ Recommendation Statement [PDF 219 KB]
"The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined."



Summary of Findings on Genetic Testing for Lynch Syndrome
The independent Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found good scientific evidence to recommend that all individuals with a new diagnosis of colorectal cancer (regardless of age or family history) be offered genetic testing for Lynch syndrome, in order to help prevent cancer in their close relatives.

There are several laboratory testing approaches available to implement genetic testing for Lynch syndrome in clinical practice. However, the EGAPP™ working group determined that there is not enough evidence to recommend the use of one specific approach.


3. http://www.egappreviews.org/workingrp.htm



For Health Professionals
* More About the EGAPP Lynch Syndrome Recommendation
Genetic Testing
Health Professionals:
More About the EGAPP™ Lynch Syndrome Recommendation
This page contains more information about the EGAPP Lynch syndrome recommendation for health professionals.

For more information about genetic testing for Lynch syndrome that is not part of the EGAPP recommendation, see More About Genetic Testing for Lynch Syndrome.
http://www.cdc.gov/genomics/gtesting/EGAPP/recommend/lynch_provider.htm


More About Genetic Testing for Lynch Syndrome
Genetic Testing
Health Professionals:

** More About Genetic Testing for Lynch Syndrome


This page contains general information about genetic testing for Lynch syndrome that is not part of the EGAPP recommendation but may be important for health professionals.

About Lynch Syndrome
Lynch syndrome refers to individuals with hereditary predisposition to colorectal cancer (CRC) and other malignancies as a result of an inherited mutation in a specific type of gene known as a mismatch repair (MMR) gene. Lynch syndrome includes those with an existing cancer as well as those who have not developed cancer.

Also referred to as hereditary nonpolyposis colorectal cancer (HNPCC)
Autosomal dominant inheritance pattern (50% risk to offspring to inherit the gene mutation)
The lifetime risk for CRC in individuals with Lynch syndrome reported in the literature ranges from approximately 20-80%, dependent upon:
Gene involved
Sex of the individual
Population studied
Mean age of onset of CRC is approximately 45 years
Increased risk for other malignancies including: endometrial, ovarian, urinary tract, gastric, small bowel, pancreatic, and sebaceous skin tumors
Further information on Lynch syndrome genetic and clinical characteristics:
National Library of Medicine Genetics Home Reference
National Cancer Institute
NIH Gene Reviews
http://www.cdc.gov/genomics/gtesting/EGAPP/recommend/lynch_more.htm

No hay comentarios:

Publicar un comentario