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Items: 8

1.

Colorectal cancer, susceptibility to, 10

Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. [from MONDO]

MedGen UID:
436445
Concept ID:
C2675481
Finding
2.

Colorectal cancer

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. [from GeneReviews]

MedGen UID:
83428
Concept ID:
C0346629
Neoplastic Process
3.

Lynch syndrome 8

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. [from GeneReviews]

MedGen UID:
412966
Concept ID:
C2750471
Disease or Syndrome
4.

Colorectal cancer, hereditary nonpolyposis, type 6

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. [from MONDO]

MedGen UID:
348732
Concept ID:
C1860896
Neoplastic Process
5.

Lynch syndrome 5

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. [from OMIM]

MedGen UID:
318886
Concept ID:
C1833477
Disease or Syndrome
6.

Lynch syndrome 4

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). [from OMIM]

MedGen UID:
325005
Concept ID:
C1838333
Disease or Syndrome
7.

Colorectal cancer, hereditary nonpolyposis, type 7

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. [from MONDO]

MedGen UID:
346893
Concept ID:
C1858380
Neoplastic Process
8.

Hereditary nonpolyposis colorectal carcinoma

MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process
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