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Hereditary Diffuse Gastric Cancer (HDGC)

Posted by Karen Chelcun Schreiber On January - 29 - 2010

Gastric cancer is the second most common cause of cancer-related death in the world.

The American Cancer Society estimated that 21,500 new cases of stomach (gastric) cancer would be diagnosed in the United States in 2008.1 Because gastric cancer is difficult to diagnose, it is often discovered in patients at a late stage with a poor prognosis. The treatment for gastric cancer is surgery and chemotherapy;2 however, the overall 5-year survival rate is low, at 24.3%.1

It is estimated that 1-3% of cases of gastric cancer are caused by Hereditary Diffuse Gastric Cancer.2 Hereditary diffuse gastric cancer (HDGC) is an inherited cancer syndrome that leads to an increased risk for both diffuse gastric cancer and lobular breast cancer in women. Patients who inherit the genetic mutation for HDGC are at high risk for developing gastric cancer at a young age.3 Read the rest of this entry »

Watch the video about Mapping the Human Genome and Stomach Cancer.

“Good Morning America” considers the discovery of genetic markers such as the one causing HDGC to be one of the top medical advances of the decade. Stomach cancer is mentioned specifically in this video from December 29, 2009 featuring Dr. Tim Johnson’s descriptions of medical breakthroughs. We are confident that the efforts of all of us impacted by HDGC and other diffuse gastric cancers, have already resulted in this national coverage: one small step in educating the world, on our journey to prevent gastric cancer and ultimately to find a cure!

CDH1 gene mutation causes stomach cancer: How is it inherited?

Posted by Karen Chelcun Schreiber On November - 7 - 2009

CDH1 Mutations and Inheritance

By Amy Stettner, MS, CGC
Genetic Counselor
Madison, WI

Our bodies are made up of trillions of tiny cells. We have skin cells, muscle cells, bone cells, stomach cells, etc. Each cell contains a copy of our genetic code. This genetic code is made up of DNA and is packaged into structures called chromosomes. Read the rest of this entry »

HDGC and the Increased Risk of Lobular Breast Cancer

Posted by Johanna Chelcun On August - 25 - 2009

by Johanna Chelcun, MHS, PA-C

 

Scientific Background

The role of the E-cadherin protein affected by CDH1 gene mutations is adhesion of adjacent cells in certain tissues of the body.   In patients with a CDH1 gene mutation, the loss of E-cadherin is thought to lead to invasive tumors, most often in the lining of the stomach.  However, a form of breast cancer called lobular breast cancer has also been associated with the CDH1 gene mutation and hereditary diffuse gastric cancer.

Lobular breast cancer caused by CDH1 mutations cause cancerous cells to be scattered throughout the breast tissue, making the cancer difficult to diagnose (much like hereditary diffuse gastric cancer).  Additionally, the same type of cancer cells, called signet ring cells, are found in both lobular breast cancer and diffuse gastric cancers.  This helps to solidify a relationship between the CDH1 gene mutation and an increased risk of both diffuse gastric cancer and lobular breast cancer.  To date, lobular breast cancer is the only cancer besides gastric that is known to occur at increased rates in families affected by a CDH1 gene mutation. Read the rest of this entry »

By Johanna Chelcun, MHS, PA-C

 

As we now know, hereditary diffuse gastric cancer is a rare inherited syndrome that is caused by a genetic mutation in the CDH1 gene. This gene has the possibility of being passed from generation to generation, and the effects of the inheritance can be devastating. Looking beyond HDGC, we notice that the new wave of medicine is focused on genetic mapping, counseling, and testing - searching for patterns of heart disease, autism, dementia, and all types of cancer, to name a few.

 

Often times, primary care physicians simply don’t have the time to ascertain and document a thorough family history during a brief appointment. They are often allotted only 15-minute intervals to discuss your own medical history, review your medication list, talk about any current issues or concerns, perform a physical exam, develop a management plan, prescribe any new medications, and update your medical record (whew!). The time spent on family history is minimal, and sometimes even missed altogether.

 

Read the rest of this entry »

Facts about Stomach Cancer and Stomach Cancer Research Funding

Posted by Johanna Chelcun On June - 30 - 2009

By Johanna Chelcun, PA-C

 

Did you know…

 

…that Hereditary Diffuse Gastric Cancer (HDGC) is an inherited cancer syndrome that leads to an increased risk for diffuse gastric cancer (67-83% risk by age 80) and lobular breast cancer (20-40% risk for women by age 80.)

 

…that the American Cancer Society estimated that one million people worldwide would be diagnosed with stomach cancer in the year 2007, and that 800,000 would die from the disease? Read the rest of this entry »

Hereditary Diffuse Gastric Cancer (HDGC): A Resource for You

Posted by Karen Chelcun Schreiber On June - 13 - 2009

HDGC...Now What?

Be sure to visit HDGC…Now What?

 

You, or someone close to you has been diagnosed with HDGC.  Now what?  The search is on, for information, for support, for encouragement.

  
We are committed to developing this network, a valuable source of credible and useful information.  Join our community of support for all of those touched by HDGC or other types of stomach cancer.  Your participation can be as little or as much as you desire.  You decide. Read the rest of this entry »

Pay Attention to the Pathologist Behind the Curtain

Posted by Karen Chelcun Schreiber On June - 10 - 2009

“You have doctors you’ve never met, but who are absolutely essential to your care. Pathologists are in the background, but are key to diagnosis, treatment and care,” says Kent B. Lewandrowski, MD, associate chief of Pathology and director of clinical services for the Pathology Department at Massachusetts General Hospital.

I personally discovered the critical nature of pathology in the treatment of HDGC while researching the topic after testing positive for the CDH1 gene mutation that causes HDGC. While interviewing a prospective surgeon I asked “Who will be analyzing my stomach, who is the pathologist?” This is how I first learned of Dr. Gregory Lauwers, his expertise with gastric cancer, his experience with HDGC patients, and more about the extensive and time consuming analysis that would be performed on my stomach following its removal. I met with Dr. Lauwers, approximately sixteen days following my surgery, to get my pathology results first hand and learn more about the process.  My stomach remains, in Boston, in wax blocks, in 170 sections, in a drawer, for all of eternity.  Read more about the importance of surgical pathology.

 

Pay Attention to the Pathologist Behind the Curtain, by Cathryn Delude

Massachusetts General Hospital, Cancer Center
Synergy, Winter/Spring 2009

Related Article:   Choosing a Surgeon: Ten questions to ask

HDGC Presentation Correction

Posted by Karen Chelcun Schreiber On May - 24 - 2009

Please note the following corrections to the HDGC Presentation that appears on the Education page:

Read the rest of this entry »

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