Lynch syndrome: Many hospitals now screen all colon cancers for genetic markers

March 22 is Lynch Syndrome Awareness Day in Michigan

According to the Michigan Department of Health approximately 5,000 new cases of colon cancer are diagnosed in our state each year (data from 1985-2009). It is estimated that three out of every 100 (3%) colon cancers diagnosed are associated with Lynch syndrome, and that only a minority of these patients are aware of Lynch syndrome.

Shanna Gustafson, MS, MPH, is a Cancer Genetics Counselor at the U-M Comprehensive Cancer Center

Shanna Gustafson, MS, MPH, is a Cancer Genetics Counselor at the U-M Comprehensive Cancer Center

Lynch syndrome is an inherited condition associated with an increase in risk for colon cancer. Uterine (endometrial) cancer, ovarian cancer, upper GI (stomach and small bowel) cancers, biliary tract, urinary tract (kidney, etc.) cancers, and sebaceous skin tumors can also be seen in families with Lynch syndrome. Identifying families with Lynch syndrome allows for increased screening and prevention.

Lynch syndrome is caused by inherited mutations in any one of these 5 genes, MLH1, MSH2, MSH6, PMS2 and TACSDT1/EPCAM. Several studies have exhibited that screening all colon cancers using specialized testing called microsatellite instability analysis (MSI) and immunohistochemistry (IHC) analysis for the MLH1, MSH2, MSH6 and PMS2 proteins is effective in identifying families which may benefit from further evaluation and genetic testing for Lynch syndrome. This is called universal screening and many hospitals have adopted policies which perform these screening tests on all new colon cancers removed surgically at their centers. Continue reading

8 tips for stress-free holidays

stress-free holidays

From Thanksgiving to New Year’s Day, the holiday scramble can be daunting even under the best of circumstances. But people coping with cancer face different stresses. Here are some tips from patients, parents, survivors and social workers at the U-M Comprehensive Cancer Center on how to make the best of the season and enjoy stress-free holidays. Continue reading

Understanding Childhood Cancers and How Genetics Could be Involved

Due to advances in research and collaborative studies, the National Cancer Institute reports that the long-term survival for children with cancer has increased from less than 10% to almost 80% in the past 50 years.

In general, cancer in children and adolescents is rare, with particular cancers occurring more often:

  • leukemia
  • lymphoma
  • brain and central nervous system tumor
  • tumors of developing tissues such as neuroblastoma, bone and soft tissue sarcomas
  • other cancers

While most cancers in children occur by chance, a small portion can be linked to an inherited genetic syndrome. One study of 1,100 pediatric cancer patients evaluated by genetic specialists confirmed an inherited cancer susceptibility syndrome in 3.9% and a suspected syndrome in another 3.3%*.

Though your child may already be seeing a number of specialists, referral to a geneticist or a genetic counselor can be another important piece which may provide a better understanding of why your child developed cancer and what this diagnosis means for siblings and other family members.

If other family members have been diagnosed with cancers, this could indicate an inherited syndrome that increases risks for cancer. Some of the pediatric cancers that may suggest an inherited predisposition to cancer and warrant a referral to a genetics clinic include:

  • medullary thyroid cancer
  • adrenal cortical carcinoma
  • retinoblastoma
  • sarcoma

Physicians and genetic counselors in the Cancer Genetics Clinic at the University of Michigan meet with patients and families to review your family history and determine if genetic testing may help clarify risks for additional cancers in the family. Targeted screenings and other risk reduction efforts can be taken in an effort to prevent cancer in the future.  The Cancer Genetics Clinic welcomes patients of all ages who may have questions about the risk of a genetic predisposition in their family.

Continue learning about cancer and genetic risk

*(Merks et al, Am J Med Genet. 2005 Apr 15; 134A(2):132-43)

Prostate Cancer and Genetics

One in six men will develop prostate cancer in their lifetime. Age and race are two of the most recognized risk factors, but some risk factors can be inherited. Large scale population studies of men who have brothers or fathers with prostate cancer have shown an increase in risk that is two to three times the general population.

Some clues to inherited risk within a family include:

  • Cancer diagnosed at earlier ages than typically expected (under 40)
  • Families with multiple individuals with prostate cancer
  • Other cancers in family members including:
    • Breast cancer
    • Ovarian or uterine cancer
    • Pancreatic cancer
    • Colorectal cancer

People concerned about their families’ history of prostate and other cancer may benefit from meeting with a genetic counselor in the Cancer Genetics Clinic to talk about cancer risk, possible genetic testing, screening options or research opportunities. Families who find that they are at a higher risk for prostate cancer and other cancers can benefit from increased screening and prevention options.

Approximately 5-10% of prostate cancers are thought to be related to high risk susceptibility genes, which can be passed from parent to child. Some genes are currently well known, while it is likely some still remain to be discovered. Some of these genes may also be linked to an increase in risk for additional cancers.

Research is ongoing at the University of Michigan Comprehensive Cancer Center and elsewhere to learn and discover new genes associated with a strong family history of prostate cancer.

Continue reading about cancer genetics and prostate canceral

Lynch Syndrome: The Genetic Side of Colorectal Cancer

Michigan Gov. Rick Snyder has designated March 22 Lynch Syndrome Awareness Day.

Her aunt died of colon cancer at age 72.  Her cousin died of colon cancer at age 49.  When her mother was diagnosed with colon cancer at age 70, three years after being treated for uterine cancer, Paula realized it was time to act.  She had her first colonoscopy at age 41.  While the colonoscopy was normal, her doctor recognized that the pattern of cancer in the family was concerning and suggested genetic counseling.  Genetic testing in Paula’s mother found a mutation in a gene called MSH6, confirming that their family has Lynch syndrome.

Lynch syndrome is an inherited condition caused by mutations in any one of 5 genes: MLH1, MSH2, MSH6, PMS2 and EPCAM/TACSTD1.  For people who have a mutation in one of these genes, the risk for certain cancers is increased.  Colorectal cancer is the main feature of Lynch syndrome. Other cancers that can be found in families with Lynch syndrome include:

  • uterine or endometrial
  • ovarian
  • stomach or small intestine
  • biliary tract
  • sebaceous skin tumors
  • urinary tract, such as kidney

Identifying families with Lynch syndrome allows us to intervene with screening and preventive options.  Colonoscopies every year beginning at age 20 can dramatically reduce the risk of colon cancer in people with Lynch syndrome. Continue reading

Finding the right doctor to treat pancreatic cancer

Finding a doctor can be a daunting task, particularly if you’re facing a pancreatic cancer–a relatively rare, but deadly, diagnosis. Diane Simeone, M.D., director of the University of Michigan Comprehensive Cancer Center’s pancreatic cancer research program, recently offered tips to the Lustgarten Foundation about how patients can find the best care for them. The Lustgarten Foundation is a private organization that funds pancreatic cancer research. Each year, 38,000 Americans are diagnosed with pancreatic cancer.

Visit the Cancer Center’s website to read the interview.