Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Hum Mutat. 2012.
PMID: 22753075
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functional character¬nation of MLH1 missense variants identified in Lynch Syndrome patients.
(34 results)?
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Hum Mutat. 2012 Dec;33(12):1647-55. doi: 10.1002/humu.22153. Epub 2012 Jul 23.
Hum Mutat. 2012.
PMID: 22753075
Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer or HNPCC. ...We have examined the …
Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Ly …
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
BMC Med Genet. 2013 Oct 3;14:103. doi: 10.1186/1471-2350-14-103.
BMC Med Genet. 2013.
PMID: 24090359
Free PMC article.
BACKGROUND: Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). ...RESULTS: We describe in sili …
BACKGROUND: Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal …
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
Cancer Med. 2018 May;7(5):2078-2088. doi: 10.1002/cam4.1316. Epub 2018 Mar 25.
Cancer Med. 2018.
PMID: 29575718
Free PMC article.
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. ...Other four novel variant …
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutation …
Comprehensive functional assessment of MLH1 variants of unknown significance.
Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12.
Hum Mutat. 2012.
PMID: 22736432
Lynch syndrome is associated with germline mutations in DNA mismatch repair (MMR) genes. Up to 30% of DNA changes found are variants of unknown significance (VUS). Our aim was to assess the pathogenicity of eight MLH1 VUS identified in patien …
Lynch syndrome is associated with germline mutations in DNA mismatch repair (MMR) genes. Up to 30% of DNA changes found are …
Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report.
Fam Cancer. 2011 Jun;10(2):255-63. doi: 10.1007/s10689-010-9409-7.
Fam Cancer. 2011.
PMID: 21136174
The purpose of this study was to evaluate functional significance of MLH1 missense mutations, previously identified in unrelated Slovenian patients with MSI-positive gastric carinomas. A novel in vivo yeast-based approach and in silico predictio …
The purpose of this study was to evaluate functional significance of MLH1 missense mutations, previously identified …
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.
Genes Chromosomes Cancer. 2009 Apr;48(4):340-50. doi: 10.1002/gcc.20644.
Genes Chromosomes Cancer. 2009.
PMID: 19156873
Free article.
So far 18 MLH3 germline mutations/variants have been identified in familial colorectal cancer cases. ...These substitutions are known as unclassified variants or UVs. To clarify a possible role for eight of these MLH3 UVs identified in suspected …
So far 18 MLH3 germline mutations/variants have been identified in familial colorectal cancer cases. ...These substitut …
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Hum Mutat. 2006 Feb;27(2):145-54. doi: 10.1002/humu.20280.
Hum Mutat. 2006.
PMID: 16395668
A substantial proportion of MLH1 and MSH2 gene mutations in hereditary nonpolyposis colon cancer syndrome (HNPCC) families are characterized by nucleotide substitutions, either within the coding sequence (missense or silent mutations) or …
A substantial proportion of MLH1 and MSH2 gene mutations in hereditary nonpolyposis colon cancer syndrome (HNPCC …
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