Please note: Any medical or genetic information present in this entry is not intended as a diagnosis of your problem, but rather is provided as a helpful guide for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Information is not necessarily complete. Please see your doctor for diagnosis and treatment.

Please note: DNAtraffic database is the project under construction and information on this page is not finished yet.

endometrial cancer

Approximately 20% of endometrial cancers demonstrate microsatellite instability (MSI), a reflection of mutations in mismatch repair genes. The mismatch repair genes that have been identified as having a role in endometrial cancer include MSH2, MSH3, MSH6, MLH1, MLH3.
In some families, endometrial cancer is associated with colorectal cancer in the same individual or individuals with hereditary nonpolyposis colorectal cancer type 1 (HNPCC1) or HNPCC2, also known as Lynch syndrome. 'Lynch syndrome II' refers to extracolonic cancers, including endometrial cancers. Mutation in the PTEN1 gene and somatic mutations in the CDH1 gene have also been demonstrated in endometrial cancers. 

TYPE: gastrointestinal (GI) cancer, risk of malignant disease, chromosomal instability

Related patway(s): Fanconi anemia (FA) pathway, mismatch repair (MMR)

DNAtraffic protein(s) related to disease: MSH2, MLH1, MSH6

OMIM: 608089

Last modification date: July 2, 2011