CDH1-related diffuse gastric and lobular breast cancer syndrome

CDH1-related diffuse gastric and lobular breast cancer syndrome is a genetic condition that increases the risk of certain types of cancers. It is known as hereditary diffuse gastric cancer and is also linked with lobular breast cancer in women. This syndrome is inherited in an autosomal dominant pattern, which means that having one copy of the altered gene can increase the risk of developing these cancers. The condition was first recognized based on the increased risk for diffuse gastric cancer. Later, research also showed an association with lobular breast cancer, particularly in women. People with this condition carry changes in the CDH1 gene, which plays a role in the normal function of cells. Understanding the genetic nature of this syndrome helps guide decisions regarding medical surveillance and management in affected families.

Information about symptoms is currently limited for this condition. In many cases, the syndrome does not cause specific symptoms until cancer develops. For some people, this might mean that early stages are not marked by obvious signs, and cancer may be detected through routine screenings or genetic testing.

This syndrome is caused by germline pathogenic or likely pathogenic variants in the CDH1 gene. These genetic changes are inherited in an autosomal dominant pattern, which means that a single copy of the altered gene from an affected parent can predispose a person to the condition. The gene normally helps cells stick together, and changes in the CDH1 gene can lead to problems in cell adhesion. This impaired cell function is linked to the development of diffuse gastric cancer and lobular breast cancer.

Information about treatment options is currently limited for this condition. Treatment depends on whether cancer has developed and may include cancer-specific approaches based on current medical practice.

Information about prognosis is currently limited for this condition. The outlook may vary among people and depends on factors such as when and how cancer is detected and managed.

Information about current research and future directions is currently limited for this condition. Ongoing research may focus on better understanding the genetic mechanisms and improving early detection and management strategies for the cancers associated with this syndrome.