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Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

Posted by Karen Chelcun Schreiber On July - 20 - 2010

An article published recently in the Journal of Medical Genetics outlines new recommendations for management of patients and families with Hereditary Diffuse Gastric Cancer, based on a workshop of the International Gastric Cancer Linkage Consortium (IGCLC) held in late 2008.  The workshop, convened in Cambridge, UK, included expert geneticists, gastroenterologists, oncologists, surgeons, and pathologists from nine countries, and discussion topics included genetic counselling and testing, surveillance endoscopy, prophylactic gastrectomy, and review of pathology specimens.

Some of the outcomes of the IGCLC workshop include: Read the rest of this entry »

Education, Front, Gastrectomy, Genetics, HDGC, Hereditary Diffuse Gastric Cancer, Lobular Breast Cancer, Research

Increased Risk of Colon Cancer in HDGC Patients

Posted by Karen Chelcun Schreiber On January - 30 - 2010

The following is an excerpt from the as yet unpublished Cambridge meeting. The paper has just been accepted by the Journal of Medical Genetics and will be published early in the new year.

“There is also emerging evidence for an increased risk of colon cancer in HDGC families, and these colon cancers can display signet ring cell features (personal communications David Huntsman and Paul Pharoah). In CDH1 families in which colon cancer is reported information should be collected concerning the age at diagnosis, whether the affected member(s) are first or second degree relatives and whether the pathology was mucinous or showed signet ring cells. Depending on these factors enhanced screening should be considered with colonoscopy beginning at age 40 or 10 years younger than the youngest diagnosis of colon cancer, whichever is younger, and repeated at intervals of 3-5 years. It is imperative that data on colonoscopic screening in these individuals is collated so that these guidelines can be evidenced based in the future”.

Fitzgerald et al (2010) J.Med. Genet. in press.

Know your family history. Be proactive. Talk to your doctor about the health screenings that are appropriate for you.

Front

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 »

Education, Front, Genetics, HDGC, Hereditary Diffuse Gastric Cancer

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 »

Education, Front, Genetics, HDGC, Hereditary Diffuse Gastric Cancer, Lobular Breast Cancer

Know Your Family History: The importance of communication and record-keeping

Posted by Johanna Chelcun On August - 12 - 2009

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 »

Education, Families, Front, HDGC, Hereditary Diffuse Gastric Cancer
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    • Karen Chelcun Schreiber wrote a new blog post: Scientific Advisory Board   3 days, 21 hours ago

      Scientific Advisory Board members are highly accomplished professionals with medical and/or research background, who provide expert and comprehensive perspectives as well as guidance to No Stomach For Cancer, Inc. with regard to technical, medical, and research related topics. The Board provides knowledge and support that are critical in furthering our Mission.

      Daniel C. Chung, MD
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    • Nina healey wrote on the wire of the group Lobular Breast Cancer   1 week, 1 day ago

      I am new to this group. I am actually a cousin of Lorraine Ennis. In March 2007, I was diagnosed with Invasive Lobular Carcinoma in my right breast. I had a mastectomy in March, during which the dr checked the lymph nodes by removing the main node and checked it while I [...]

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    • Gretchen Borzi wrote on the wire of the group Lobular Breast Cancer   3 weeks, 2 days ago

      Lorraine and Cathy, you’re stories are inspiring. I wish you both the best of luck with your surgeries and recovery. Right now, it’s hard for me to imagine being in your shoes, but I will most likely be there at some point. Thanks for sharing.