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Familial Cancer|March 25, 2011
A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic oneJukka Kantelinen, Thomas V O Hansen, Minttu Kansikas, et al.
Carcinogenesis|April 28, 2018
Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancerMarjaana Pussila, Petri Törönen, Elisabet Einarsdottir, et al.
Genes, Chromosomes & Cancer|May 13, 2004
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1Tiina E Raevaara, Anne-Marie Gerdes, Karin E Lönnqvist, et al.
The American Journal of Pathology|June 12, 2002
Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instabilityShannon A Kuismanen, Anu-Liisa Moisio, Pascal Schweizer, et al.
Genes, Chromosomes & Cancer|January 17, 2002
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancerMinna Nyström-Lahti, Claudia Perrera, Markus Räschle, et al.
Human Genetics|January 11, 2003
Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?Reetta Kariola, Robyn Otway, Karin E Lönnqvist, et al.
Gastroenterology|August 2, 2003
Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional proteinTiina E Raevaara, Carlos Vaccaro, Wael M Abdel-Rahman, et al.
Human Mutation|March 26, 2003
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in SlovakiaZdena Bartosova, Ivana Fridrichova, Maria Bujalkova, et al.
International Journal of Oncology|December 6, 2005
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCCSaara Ollila, Roslyn Fitzpatrick, Laura Sarantaus, et al.
Ebiomedicine|April 7, 2024
Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesisMarjaana Pussila, Aleksi Laiho, Petri Törönen, et al.
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