Diffuse Gastric and Lobular Breast Cancer Syndrome (DGLBC)

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MedlinePlus Genetics: ⁴² Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones.Symptoms of diffuse gastric cancer occur late in the disease and can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss. If the cancer metastasizes to other tissues, it may lead to an enlarged liver, yellowing of the eyes and skin (jaundice), an abnormal buildup of fluid in the abdominal cavity (ascites), firm lumps under the skin, or broken bones.In HDGC, gastric cancer usually occurs in a person's late thirties or early forties, although it can develop anytime during adulthood. If diffuse gastric cancer is detected early, the survival rate is high; however, because this type of cancer is hidden underneath the stomach lining, it is usually not diagnosed until the cancer has become widely invasive. At that stage of the disease, the survival rate is approximately 20 percent.Some people with HDGC have an increased risk of developing other types of cancer, such as a form of breast cancer in women that begins in the milk-producing glands (lobular breast cancer); prostate cancer; and cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. Most people with HDGC have family members who have had one of the types of cancer associated with HDGC. In some families, all the affected members have diffuse gastric cancer. In other families, some affected members have diffuse gastric cancer and others have another associated form of cancer, such as lobular breast cancer. Frequently, HDGC-related cancers develop in individuals before the age of 50.

MalaCards based summary: Diffuse Gastric and Lobular Breast Cancer Syndrome, also known as hereditary diffuse gastric cancer, is related to gastric cancer and gastric adenocarcinoma. An important gene associated with Diffuse Gastric and Lobular Breast Cancer Syndrome is CDH1 (Cadherin 1), and among its related pathways/superpathways are ERK Signaling and Disease. Affiliated tissues include breast, small intestine and colon, and related phenotypes are cleft palate and cleft upper lip

OMIM®: ⁵⁷ Diffuse gastric cancer and lobular breast cancer syndrome (DGLBC) is an autosomal dominant cancer predisposition syndrome. Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer. Identification of mutation carriers is important, because the characteristic microscopic foci of signet ring cell adenocarcinoma in HDGC usually involves the submucosa and is often not readily detectable by routine upper endoscopy screening (summary by Fitzgerald et al., 2010). DGLBC is considered to be a distinct disease entity from the more common sporadic occurrence of gastric cancer (613659), which can be associated with environmental factors such as Helicobacter pylori infection, high-fat diet, or smoking and is often associated with somatic mutations in disease tissue. (137215) (Updated 08-Dec-2022)

GARD: ¹⁹ Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) of developing a specific form of stomach cancer called diffuse gastric cancer. Women with HDGC also have an increased risk for lobular breast cancer. Cancers associated with HDGC generally occur at earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing.

UniProtKB/Swiss-Prot ⁷³ Hereditary diffuse gastric cancer: A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body.

Breast cancer, lobular: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast.

Orphanet: ⁵⁸ Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

Disease Ontology: ¹¹ A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes.

Wikipedia: ⁷⁵ Hereditary diffuse gastric cancer (HDGC) is an inherited genetic syndrome most often caused by an... more...

Clinical features from OMIM®:

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