Endometrial carcinoma- MedGen UID:
- 96903
- •Concept ID:
- C0476089
- •
- Neoplastic Process
A carcinoma of the endometrium, the mucous lining of the uterus.
Lynch syndrome 5- MedGen UID:
- 318886
- •Concept ID:
- C1833477
- •
- Disease or Syndrome
Lynch syndrome-5 (LYNCH5), or hereditary nonpolyposis colorectal cancer type 5 (HNPCC5), is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of Lynch syndrome, see 120435.
Lynch syndrome 4- MedGen UID:
- 325005
- •Concept ID:
- C1838333
- •
- Disease or Syndrome
Lynch syndrome-4 (LYNCH4), or hereditary nonpolyposis colorectal cancer type 4 (HNPCC4), is an autosomal dominant disorder characterized primarily by the development of early-onset colorectal cancer. It is associated with the development of a variety of epithelial tumors that include endometrial cancer, stomach cancer, and ovarian cancer (summary by Thompson et al., 2004).
Colorectal cancer, susceptibility to, 10- MedGen UID:
- 436445
- •Concept ID:
- C2675481
- •
- Finding
Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.
Lynch syndrome 8- MedGen UID:
- 412966
- •Concept ID:
- C2750471
- •
- Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Familial adenomatous polyposis 3- MedGen UID:
- 902388
- •Concept ID:
- C4225157
- •
- Disease or Syndrome
NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%.