Results 141 to 150 of about 42,200 (256)
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome [PDF]
, 2016 Muhammad Usman Rashid +7 more
openalex +1 more source
The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome [PDF]
, 2023 Yiming Li +4 more
openalex +1 more source
Presumed TP53 mosaicism: variants detected using a NGS hereditary cancer multigene panel [PDF]
, 2019 Aims/Context: NGS multigene panels are routinely used to identify germline pathogenic variants in cancer susceptibility genes. In addition, NGS allows the identification of low-level mosaicism events that may not be detectable by conventional Sanger ...
Gonçalves, João +5 more
core
Expression status of MLH1 and MSH2 mismatch repair proteins in colorectal carcinoma
, 2023 Said A-A Mohamed +3 more
openalex +1 more source
JCI InsightLynch syndrome (LS), caused by inherited mutations in DNA mismatch repair genes, including MSH2, carries a 60% lifetime risk of developing endometrial cancer (EC). Beyond hypermutability, mechanisms driving LS-associated EC (LS-EC) remain unclear.
Mikayla Borthwick Bowen +22 more
doaj +1 more source
Global and Local Conformational Studies of Mismatched Duplex DNA Upon Msh2-Msh6 Binding by Steady-State and Time-Resolved Fluorescence [PDF]
, 2013 Yan Li, Manju Hingorani, Ishita Mukerji
openalex +1 more source