Hereditary Diffuse Gastric Cancer

Symptoms

What are the main symptoms of hereditary diffuse gastric cancer?

Symptoms of stomach cancer are generally nonspecific at the early stages. Once symptoms do appear, individuals usually have an advanced stage of the disease. Symptoms in the late stage of gastric cancer may include: nausea, vomiting, abdominal pain, dysphagia (difficulty swallowing), feeling full quickly, loss of appetite, and weight loss.

The types of cancer that are suggestive of hereditary diffuse gastric cancer include: invasive lobular carcinomas, diffuse gastric cancer (also known as signet ring adenocarcinoma of the stomach), intra-mucosal signet ring cell adenocarcinomas of the stomach, and signet ring colon cancer.

References
  • Wanebo HJ, Kennedy BJ, Chmiel J, Steele G Jr, Winchester D, Osteen R. Cancer of the stomach. A patient care study by the American College of Surgeons. Ann Surg.1993;218:583–92
  • Schneider, K. (2013). Counseling About Cancer: Strategies for Genetic Counselors, 3rd Ed.
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Are there earlier onset, later onset, or variant forms of hereditary diffuse gastric cancer?

What health problems should I look for in hereditary diffuse gastric cancer?

Any other diseases that look a lot like hereditary diffuse gastric cancer?

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of hereditary diffuse gastric cancer?

Is there variable expression or incomplete penetrance in hereditary diffuse gastric cancer?

If this is a predisposition gene, what are the chances I will get hereditary diffuse gastric cancer?

Are there earlier onset, later onset, or variant forms of hereditary diffuse gastric cancer?

In 2015, doctors haven’t found that specific gene changes in CDH1 are related to specific types of gastric cancer. In other words, there are no genotype phenotype correlations with HDGC as of December 2015.

References
  • Kaurah P, Huntsman DG. Hereditary Diffuse Gastric Cancer. 2002 Nov 4 [Updated 2014 Jul 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
What health problems should I look for in hereditary diffuse gastric cancer?

Symptoms of stomach cancer are generally nonspecific at the early stages. Once symptoms do appear, individuals usually have an advanced stage of the disease. Symptoms in the late stage of gastric cancer may include: nausea, vomiting, abdominal pain, dysphagia (difficulty swallowing), feeling full quickly, loss of appetite, and weight loss.

After more than one family member has been found to have stomach, breast, and colon cancer hereditary diffuse gastric cancer should be suspected in the following situations:

  • Two or more documented cases of diffuse gastric cancer in first or second degree relatives with at least one diagnosis under 50
  • Three or more cases of documented diffuse gastric cancer in first or second degree relatives regardless of age
  • An individual with diffuse gastric cancer diagnosed under 40
  • An individual who has developed both diffuse gastric cancer and lobular breast cancer
  • An individual who has one relative diagnosed with diffuse gastric cancer and another relative diagnosed with lobular breast cancer
  • An individual who has one relative diagnosed with diffuse gastric cancer and another diagnosed with signet ring colon cancer
References
  • Schneider, K. (2013). Counseling about Cancer: Strategies for Genetic Counselors, 3rd Ed.
Any other diseases that look a lot like hereditary diffuse gastric cancer?

The differential diagnosis for HDGC includes:

  • Lynch syndrome- associated with up to an 80% lifetime risk for colon cancer, a 40% life time risk for endometrial cancer, and up to a 15% lifetime risk for stomach cancer
  • Li Fraumeni syndrome- up to a 90% life time risk for breast cancer (invasive lobular is common), increased risk for colon cancer
  • Peutz-Jeghers syndrome- Up to a 30% lifetime risk for breast cancer, colon hamartomatous polyps, and an increased risk for gastric cancer
  • Cowden syndrome- Associated with a 25-50% lifetime risk for breast cancer and an increased risk for colon cancer including GI hamartomas
References
  • Reference: Schneider, K. (2013). Counseling about Cancer: Strategies for Genetic Counselors, 3rd Ed. Lindor, N.M., et. al. (2007). Concise handbook of familial cancer susceptibility syndromes. Journal of the National Cancer Institute. Monographs, (38), 1-93.
Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of hereditary diffuse gastric cancer?

Diffuse gastric cancer usually diagnosed under the age of 40, which is rare in the general population, and lobular breast cancer.

References
  • Carneiro, F. (2012). Hereditary gastric cancer. Der Pathologe, 33(2), 231-234
Is there variable expression or incomplete penetrance in hereditary diffuse gastric cancer?

Some individuals may develop cancer earlier or later than others within their family or between different families, which is known as a variable age of onset. Not everyone who has inherited a change will develop cancer and this is something known as incomplete penetrance.

References
  • Gayther SA, et al. (1998). Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.Cancer Re;58:4086–9.
If this is a predisposition gene, what are the chances I will get hereditary diffuse gastric cancer?

If you have inherited a gene change that increases your risk for diffuse gastric cancer the chance you will actually get gastric cancer is up to 80% for males and females by age 80. The risk for lobular breast cancer is up to 60% for females by age 80, and the risk for colon cancer is increased above the general population risk.

References
  • Carneiro, F. (2012). Hereditary gastric cancer. Der Pathologe, 33(2), 231-234.
  • Cisco, R. M., Ford, J. M., & Norton, J. A. (2008). Hereditary diffuse gastric cancer. Cancer, 113(S7), 1850-1856.
  • Fitzgerald, R. C., Hardwick, R., Huntsman, D., Carneiro, F., Guilford, P., Blair, V., ... & Caldas, C. (2010). Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. Journal of medical genetics, 47(7), 436-444.

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