Results 191 to 200 of about 2,530,443 (206)

Abstract 2108: Prevalence of mutations in MSH6, PMS1 and PMS2 gene in Brazilian families with Lynch syndrome

Cancer Research, 2012
Abstract Background: Lynch syndrome (LS) is an autosomal dominant disorder predisposing to colorectal cancer and increased risk for cancers of the stomach, small intestine, hepatobiliary system, kidney, ureter, ovary, and sebaceous tumors.
Felipe C. Silva, Giovana T. Torrezan, Bianca G. Lisboa, Erika M. Santos, Israel Gomy, Benedito M. Rossi, Fabio O. Ferreira, Dirce M. Carraro   +7 more
openaire   +1 more source

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

Cancer research, 2004
The MutLalpha heterodimer formed by mismatch repair (MMR) proteins MLH1 and PMS2 is a major component of the MMR complex, yet mutations in the PMS2 gene are rare in the etiology of hereditary nonpolyposis colorectal cancer. Evidence from five published cases suggested that contrary to the Knudson principle, PMS2 mutations cause hereditary nonpolyposis ...
Hidewaki, Nakagawa, Janet C, Lockman, Wendy L, Frankel, Heather, Hampel, Kelle, Steenblock, Lawrence J, Burgart, Stephen N, Thibodeau, Albert, de la Chapelle   +7 more
openaire   +1 more source

Promoter mutation analysis of PMS2 gene in solid tumors and acute leukemias

Pathology - Research and Practice, 2019
Ha Yoon, Mo, Eun Ji, Choi, Nam Jin, Yoo, Sug Hyung, Lee   +3 more
openaire   +2 more sources

The Challenging PMS2 Gene Mutation and its Role in Cancer Survivorship

International Journal of Clinical Studies and Medical Case Reports, 2020
openaire   +1 more source

Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features

Genes, 2022
Mónica Pedroni, Luca Roncucci, Luca Reggiani Bonetti   +2 more
exaly  

Extensive gene conversion at thePMS2DNA mismatch repair locus

Human Mutation, 2007
Michel de Vos
exaly  

Regulation Of Mismatch Repair Genes Msh2, Mlh1 And Pms2 In Invasive Carcinoma Of The Breast

International Journal of Gynecological Cancer, 2006
A. Schroeer, M. Otte, J. Li, F. Keister, D. Fischer, K. Diedrich, M. Friedrich   +6 more
openaire   +1 more source

Recurrent and founder mutations in the PMS2 gene

Clinical Genetics, 2013

exaly  

Human JTV1 gene overlaps PMS2 gene

1997
VOGELSTEIN BERT, KINZLER KENNETH W, NICOLAIDES NICHOLAS C   +2 more
openaire   +3 more sources

LARGE DELETIONS IN HUMAN PMS2 GENE AND USE THEREOF

2013
BOWLES KARLA, LECLAIR BENOIT, RAJAMANI SARADHA, TROST JEFFREY T, LANDON JACK W, ROA BENJAMIN B   +5 more
openaire   +1 more source