Missense alterations of the mismatch repair gene MLH1 have been identified in a significant proportion of individuals suspected of having Lynch syndrome, a hereditary syndrome that predisposes for cancer of colon and endometrium. The pathogenicity of many of these alterations, however, is unclear. A
✦ LIBER ✦
Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
✍ Scribed by Mensenkamp, Arjen R.; Vogelaar, Ingrid P.; van Zelst–Stams, Wendy A.G.; Goossens, Monique; Ouchene, Hicham; Hendriks–Cornelissen, Sandra J.B.; Kwint, Michael P.; Hoogerbrugge, Nicoline; Nagtegaal, Iris D.; Ligtenberg, Marjolijn J.L.
- Book ID
- 121453987
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 297 KB
- Volume
- 146
- Category
- Article
- ISSN
- 0016-5085
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Gene dosage abnormalities account for a significant proportion of the mutations in genes tested in DNA diagnostic laboratories. Detection of these changes has proved a challenge as the methods available to date are time consuming or unreliable. The multiplex ligation-dependent probe assay (MLPA) is