A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome

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dc.contributor.authorPandey, Arti Sen_US
dc.contributor.authorShrestha, Sudipen_US
dc.date.accessioned2020-01-02T06:28:03Z
dc.date.available2020-01-02T06:28:03Z
dc.date.issued2018-10
dc.description.abstractA novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history of colon cancer. Immunohistochemistry showed negative expression of PMS2 and MLH1 in the resected tumor sample. The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to carry out its mismatch repair function.en_US
dc.identifier.affiliationsOnco-Genetics Unit, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepalen_US
dc.identifier.affiliationsDepartment of Medical Oncology, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepalen_US
dc.identifier.citationPandey Arti S, Shrestha Sudip. A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome. Indian Journal of Cancer. 2018 Oct; 55(4): 410-412en_US
dc.identifier.issn0019-509X
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/190400
dc.languageenen_US
dc.publisherIndian Cancer Societyen_US
dc.relation.issuenumber4en_US
dc.relation.volume55en_US
dc.source.uriDOI:10.4103/ijc.IJC_349_18en_US
dc.titleA novel frameshift mutation in the MLH1 gene in a patient with Lynch syndromeen_US
dc.typeJournal Articleen_US
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