Endometrial cancer in Lynch syndrome
S Zhao, L Chen, Y Zang, W Liu, S Liu… - … Journal of Cancer, 2022 - Wiley Online Library
Lynch syndrome (LS) is an autosomal dominant inherited disease caused by germline
pathogenic variants (PVs) in mismatch repair (MMR) genes. LS‐associated endometrial …
pathogenic variants (PVs) in mismatch repair (MMR) genes. LS‐associated endometrial …
Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome
K Tamura, M Kaneda, M Futagawa, M Takeshita… - International journal of …, 2019 - Springer
Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant
manner, wherein colon cancer and endometrial cancer develop frequently in the family, it …
manner, wherein colon cancer and endometrial cancer develop frequently in the family, it …
[HTML][HTML] Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat
Huntington's disease (HD) is a dominant neurological disorder caused by an expanded HTT
exon 1 CAG repeat that lengthens huntingtin's polyglutamine tract. Lowering mutant …
exon 1 CAG repeat that lengthens huntingtin's polyglutamine tract. Lowering mutant …
DNA mismatch repair and mutation avoidance pathways
Unpaired and mispaired bases in DNA can arise by replication errors, spontaneous or
induced base modifications, and during recombination. The major pathway for correction of …
induced base modifications, and during recombination. The major pathway for correction of …
Structure of the MutL C‐terminal domain: a model of intact MutL and its roles in mismatch repair
MutL assists the mismatch recognition protein MutS to initiate and coordinate mismatch
repair in species ranging from bacteria to humans. The MutL N‐terminal ATPase domain is …
repair in species ranging from bacteria to humans. The MutL N‐terminal ATPase domain is …
DNA mismatch repair defects: role in colorectal carcinogenesis
S Jacob, F Praz - Biochimie, 2002 - Elsevier
The inactivation of the DNA mismah repair (MMR) system, which is associated with the
predisposition to the hereditary non-polyposis colorectal cancer (HNPCC), has also been …
predisposition to the hereditary non-polyposis colorectal cancer (HNPCC), has also been …
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
Background & Aims: Germline mutations in mismatch repair genes are associated with
hereditary nonpolyposis colorectal cancer. A significant proportion of mutations are …
hereditary nonpolyposis colorectal cancer. A significant proportion of mutations are …
Mismatch Repair Gene PMS2 Disease-Causing Germline Mutations Are Frequent in Patients Whose Tumors Stain Negative for PMS2 Protein, but Paralogous Genes …
H Nakagawa, JC Lockman, WL Frankel, H Hampel… - Cancer Research, 2004 - AACR
The MutLα 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 …
major component of the MMR complex, yet mutations in the PMS2 gene are rare in the …
A role for MLH3 in hereditary nonpolyposis colorectal cancer
Y Wu, MJW Berends, RH Sijmons, RGJ Mensink… - Nature …, 2001 - nature.com
We investigated a possible role of the mismatch-repair gene MLH3 in hereditary
nonpolyposis colorectal cancer by scanning for mutations in 39 HNPCC families and in 288 …
nonpolyposis colorectal cancer by scanning for mutations in 39 HNPCC families and in 288 …
Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair
E Cannavo, G Marra, J Sabates-Bellver, M Menigatti… - Cancer research, 2005 - AACR
The human mismatch repair (MMR) proteins hMLH1 and hPMS2 function in MMR as a
heterodimer. Cells lacking either protein have a strong mutator phenotype and display …
heterodimer. Cells lacking either protein have a strong mutator phenotype and display …