Hereditary cancer syndromes are disorders that increase your risk of certain cancers due to mutations in one or more genes inherited from your parents. Genetic testing can help you determine your risk.
“Hereditary” means that it’s caused by the genes you receive from your parents. “Diffuse” means the cancer develops throughout your stomach as opposed to one isolated area.
HDGC is most strongly associated with a mutation in the CDH1gene. The majority of people with this mutation develop stomach cancer at some point in their life.
Keep reading to learn everything you need to know about HDGC including its symptoms, how its treated, and what the outlook is for people with this condition.
HDGC is a rare hereditary cancer syndrome that increases your risk of diffuse stomach cancer and lobular breast cancer.
Hereditary cancer syndromes are disorders that increase your risk of developing certain cancers due to mutations in one or more genes inherited from your parents.
HDGC goes by other names, such as:
- familial diffuse cancer of stomach
- hereditary diffuse gastric adenocarcinoma
- familial diffuse gastric cancer
- hereditary diffuse cancer of stomach
Diffuse stomach cancer is a type of stomach cancer that tends to cause a thickening of the stomach wall without causing a distinct tumor. It’s also called gastric signet-ring-cell adenocarcinoma or linitis plastica.
HDGC leads to the development of diffuse stomach cancer in most people who carry a CDH1 mutation. However, HDGC is thought to make up less than
The majority of diffuse stomach cancers aren’t associated with HDGC.
People with HDGC often don’t have symptoms in the early stages.
Late stage symptoms of HDGC
- abdominal pain
- trouble swallowing
- prolonged fullness after eating (postprandial fullness)
- loss of appetite
- unintentional weight loss
Late stage symptoms of lobular breast cancer
Lobular breast cancer often doesn’t cause noticeable symptoms in the beginning. As the cancer grows larger, you may have symptoms in your breast such as:
- thickening or hardening
- swelling or fullness
- change in texture or skin appearance
- newly developed inverted nipple
- changes in size or shape
HDGC is inherited from your parents.
The most common gene mutation associated with HDGC occurs in
Mutations in other genes such as
Both men and women can develop HDGC. Mutations in the CDH1 gene have been identified in many different ethnic groups. The first case of HDGC was described in a Māori family in New Zealand in
In a 2017
People with family members with genes linked to HDGC can receive a genetic test to see if they carry the same gene.
- have two or more relatives with a history of stomach cancer and at least one with diffuse stomach cancer
- are diagnosed with diffuse stomach cancer before age 40
- have a personal or family history of stomach cancer and lobular breast cancer if at least one relative was diagnosed before age 50
- have two or more relatives with lobular breast cancer diagnosed before age 50
- were diagnosed with multiple lobular breast cancers before age 50
- have diffuse stomach cancer and a personal or family history of a cleft lip or palate
If you have symptoms of HDGC, your doctor may order imaging tests such as:
Doctors can differentiate HDGC from other stomach cancers with a biopsy, where a small cell sample is extracted with a thin needle for lab analysis.
According to the
Treatment options for lobular breast cancer include:
The majority of people with HDGC will develop cancer at some point in their life. Catching diffuse stomach cancer before it spreads to distant organs is critical for improving your outlook.
The 5-year survival rate is above
HDGC is a cancer syndrome that predisposes you to diffuse stomach cancer and lobular breast cancer. The majority of people with HDGC develop stomach cancer at some point in their life.
Mutations in the CDH1 gene are most associated with HDGC. Doctors usually recommend aggressive screening or stomach removal for people with this mutation.
People with early stage diffuse stomach cancer have a good outlook when it’s caught early but a much poorer outlook if it advances to the late stages.