Hereditary non-polyposis colon cancer
| Disorder | |
|---|---|
| OMIM #: | #609310 (Click to access OMIM database) |
| Disorder: | Hereditary non-polyposis colon cancer |
| Also known as: | HNPCC |
| Clinical | |
| Phenotype: | age of onset is early 40s, increased risk of developing colorectal, endometrial, and ovarian cancer |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | MLH1 |
| Base Change: | G>A, at nucleotide 2141 |
| Amino Acid Change: | trp 714 --> term |
| Last updated: | 2022-11-05 |
| References |
|---|
| Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A(8):1072-87. PubMed ID: 18348259 |
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