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

CancerTagCloudAn 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:

  • Updated risk for diffuse gastric cancer to 80% by age 80 in both males and females with a CDH1 mutation
  • Updated risk for lobular breast cancer to 60% by age 80 in affected females
  • Broadened criteria for genetic testing for HDGC, to include the following:
    • Diffuse gastric cancer (DGC) in one individual under the age 40 without a family history
    • 2 cases of gastric cancer in the family, one of which was confirmed DGC before age 50
    • 3 confirmed cases of DGC in first or second degree relatives independent of age
    • Personal or family history of DGC and lobular breast cancer, with one diagnosed before age 50
  • Updated guidelines for endoscopic and breast surveillance, as well as recommendations for colonoscopy in patients with a family history of colon cancer
  • Prophylactic gastrectomy advised for all patients with a diagnosed CDH1 gene mutation, however the timing of gastrectomy is debatable and is discussed in detail in the article
  • Development of a protocol for pathology review of gastrectomy specimen in HDGC patients

Finally, it was decided that HDGC ‘Centres of Excellence’ be determined in different geographic regions, so that information and research results from HDGC patients and families around the world can be managed and discussed by experts in the field.

Read the full article from the Journal of Medical Genetics.

Personal comment from Karen Chelcun Schreiber:

Even with the broadened criteria for genetic testing for HDGC, my family still would not have met the published testing criteria when the second family member, my brother Greg, had Stage IV cancer which began with stomach symptoms. We pursued genetic counseling and testing on our own, following the eventual confirmation that Greg’s primary cancer was indeed diffuse gastric cancer. I raised my particular concern about this with Parry Guilford, one of the contributors to this article.Parry further explained as follows:

Keep in mind that guidelines are an aid or resource for clinicians, not a fixed protocol.  There will always be a grey zone.  For example, the guidelines are inherently biased against small families, or against people who don’t know their wider family history.  There is no suggestion that if a family doesn’t meet the guidelines they won’t have a particular mutation – it just means they are less likely to do so.  Smaller groups (referring to families like mine) may not meet the formal criteria, they are still suggestive of a CDH1 mutation.   – Parry Guilford

My personal position, based upon my own family’s experience, is that if anyone is seeing any instances of diffuse gastric cancer, lobular breast cancer, or a combination of the two in their family, regardless of the age or number of family members, they should seek genetic counseling.  I would also add colon cancer to that mix.  A simple blood test saved at least three lives in my family, perhaps more.

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

  1. P says:

    I am frustrated as well with the dr’s I have been in touch with. I have a brother and a sister with colon cancer. In addition, two siblings with stomach cancer (totally separate from the colon cancer). I can easlily get a colonoscopy, but both my primary and my gasteroenerologist claim there is no data to support that stomach cancer can be inherited! So now I am in process of seeking advise form a genetic counselor. You have to take charge yourself!

  2. j lawrence says:

    hi teri,i agree but until one family member has passed and another has same symtoms ,we dont know. 20 yrs ago my bro then in his 45th yr had his stomach,spleen removed after vomiting blood.he was on chemo after for 6 months.deceided to give it a miss and make the rest of his days without feeling sick and bedridden.20 yrs on he is doing ok but in the last 10 yrs we have lost 2 bros to this same gene.a younger bro started dna genetic the last 2 yrs testing has found my father,who is 93 and in perfect health is the the past 12 months myself,my son ,a neice and nephew of each bro have been tested,all have the latest tests are possitive and i am booked into peter macs in melb for total gastrectomy .this is a rare gene.unfortunatly,once found it seems to spread to family members .only dna can detect this cancer,my last bro was sick for 12 months 2 weeks before he died was told his illness was all in his mind.we did not know then dna was available.hope my story can help.will keep this site informed re my op.

  3. Johanna says:

    My hope is that with the increasing knowledge of medical genetics, HDGC will slowly come to be included in medical school training programs. Dr. Sam Yoon and Dr. Daniel Chung from Mass General Hospital in Boston recently included an entire chapter dedicated to HDGC in their textbook Principles of Clinical Cancer Genetics (available on amazon – see link below). This is definitely a start! Also, new literature is being published very quickly about HDGC and included in journals focusing on genetics, surgery, etc. Hopefully this will raise clinician awareness as well.

    As a Physician Assistant by training, I’ve been trying to take small steps to also educate the PA world, many of whom work in primary care and have the opportunity to detect families who meet testing criteria for HDGC. I gave a web-lecture on HDGC as part of a medical genomics course at my alma mater, and also hope to either present at a national PA conference or publish in a PA journal sometime in the near future.

    Let’s hope that sometime in the next decade, all medical professionals will learn about HDGC as part of their training!

  4. Cindy Chelcun says:

    If it is a soapbox for you, I am right there with you!! Medical provider education about HDGC is one of my TOP goals for helping No Stomach For Cancer after I retire (in one week). We will be taking our first baby steps by establishing an educational program in my community, with goals of expanding to other cities and states as quickly as possible. My goal is to have a packet of information for anyone to take to their local healthcare system to offer medical education about HDGC, with a suggested format and resources attached. Please let us know if you would like to be involved in these early stages. In honor of our loved ones lost, we can be determined to help save others with this critical information.
    Cindy Chelcun

  5. Teri Garin says:

    So glad to here the experts are beginning to refine the standard of care. My concern is this: how is this info getting out to the MD’s on the “frontlines” so to speak?, The family practitioners and internal medicine docs , these are the Mds that might be able to detect a pattern in a family by taking a thorough history and making a referral to a genetic couselor before someone has to die……I can’t tell you how many times I have run across people that have a suspicious family medical history for CDH1 mutation but because their MD hasn’t approached them to check it out or alert them (probably because they have never heard of the mutation) they won’t look into it themselves. I think this gene is not as rare as everyone thinks it is and once the word gets out to the majority of MDs we will see larger populations. Ok I sort of got up on my soap box but it has been frustrating for me after what all of our families have been through, seems like the general medical community is still in the dark ages.

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