Lynch Syndrome

Lynch Syndrome is an inherited condition that greatly increases your chances of developing colorectal cancer (lifetime risk 80%) as well as endometrial cancer in women (lifetime risk 60%). Also associated with the disease are cancers of the stomach , pancreas, ovary , bladder, ureter, renal pelvis, biliary tract, brain (usually glioblastoma as seen in Turcot Syndrome), sebaceous gland adenomas and keratoanthomas in Muir-Torre syndrome, and carcinoma of the small bowel. These cancers develop younger (mean age in the 40's). Therefore, it is extremely important that a family and or individual be properly diagnosed (via genetic counseling and testing) so that they can better manage their health and receive the lifetime screenings and surveillance they need.

Genetics

What causes Lynch Syndrome?

Mutations in the Mismatch Repair Complex or DNA Repair Complex . This is the complex responsible for recognizing and fixing erroneous insertions, deletions and mis-incorporation of bases in the genetic code, these errors include nucelotide that can arise during DNA replication and recombination. However, once the complex is compromised. Consequently, these errors accumulate, affecting other genes that maintain the integrity of the cell, and thus can lead to abnormal cell growth or cancer .

These genes include MLH1, MSH2, MSH6,PMS2. Together the MLH1 and MSH2 genes account for 90% of mutations found in Lynch Syndrome families.

Genetic Counseling and Testing

UCSF Cancer Risk Program: Genetic Testing Key to Detecting Lynch Syndrome

Authors

Jonathan Terdiman, M.D.

Gastroenterologist

Director of Gastrointestinal Cancer Prevention Program at UCSF

Amie Blanco, M.S., C.G.C

Gordon and Betty Moore Endowed Counselor of Gastrointestinal Cancer Genetics

Cancer Risk Program at UCSF

If you are unable to access the article directly from this website you can type in, http://www.ucsfhealth.org/common/pubs/primarycare/oct2008/genetic_screening/index.html, onto your web browser.

Lynch Syndrome, A Family Affair!

Communicating genetic tests results with your family is extremely important. It is important to not only share these results with only first degree relatives but with the entire extended family. There are many reason why an individual may not chose to disclose such information with family, such as family dynamics, children are too young, the list goes on. But it is a responsibility to at least attempt to communicate such results in order to the prevent Lynch Syndrome associated cancers in the family.

Genetic Information Non-Discrimination Act (GINA) 2008

http://www.geneticfairness.org/

Click here to Download What does GINA Mean? in Adobe Acrobat PDF format

Director, Selena Raquel Martínez, recently had lunch with Dr. Robert Kubin founder of LynchSyndrome.Net to discuss their interest and visions for raising awareness about Lynch Syndrome. Over that meeting Dr. Kubin gave DetectTheMutation permission to use his website as a main resource for Lynch Syndrome information. It is an amazing site that accurately describes the disorder, how to diagnose it, and the latest information regarding colonoscopies and other research. Dr. Kubin has done a wonderful job keeping the community informed about Lynch Syndrome. I strongly encourage you to check out his website (below) for more information!

Lynch Syndrome.Net

http://www.lynchsyndrome.net/

Mayo Clinic also provides excellent information regarding Lynch Syndrome in addition to other resources.

http://mayoclinic.com/health/lynch-syndrome/DS00669/

"All in the Family: Inherited Cancers Risks" was presented by Amie Blanco at the first National Latino Cancer Summit held at UCSF's Mission Bay Campus this past July. The lecture covers a brief introduction regarding factors that may influence a certain cancer i.e. breast, followed by cancer and genetics. Subsequently, she begins discussing hereditary cancers. The two types of hereditary cancer mainly discussed are Hereditary Breast and Ovarian Cancers (HBOC) and Hereditary Colorectal Cancers such as Lynch Syndrome. After discussing the latter, Amie addresses the importance of genetic counseling when hereditary risks are involved.

Here you can download an MP3 audio recording of this lecture, as well as her presentation slides if you wish to follow along.

Click here to Download MP3 of "All in the Family: Inherited Cancers Risks"

Click here to Download the presentation slides in Adobe Acrobat PDF format

Amie Blanco, MS, Certified Genetic Counselor , Gastrointestinal Cancer Prevention Program, Cancer Risk Program at UCSF Helen Diller Family Comprehensive Cancer Center

amie.blanco@ucsfmedctr.org
(415) 885-7481 (voice)
(415) 353-9737 (fax)
Box 1623, UCSF; San Francisco, CA 94143-1623

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