Hereditary disordersAn update of HNPCC (Lynch syndrome)☆
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Cited by (186)
New facial papules in a 66-year-old woman with bladder cancer
2014, Journal of the American Academy of DermatologyHumans accumulate microsatellite instability with acquired loss of MLH1 protein in hematopoietic stem and progenitor cells as a function of age
2012, BloodCitation Excerpt :Microsatellite length changes are called microsatellite instability (MSI). Detection of MSI and loss of the MMR pathway are strongly associated with hereditary nonpolyposis colorectal cancer (HNPCC).5 Mutations in 1 allele of either the MLH1 or MSH2 genes account for roughly 90% of known HNPCC mutations, and MSI is frequently observed in tumors that arise in these patients after a subsequent mutation in the remaining allele.6
Human MutS and FANCM complexes function as redundant DNA damage sensors in the Fanconi Anemia pathway
2011, DNA RepairCitation Excerpt :Notably, only a small fraction of MSH2 interacts with FA core complex, indicating that most MutS homologs in the cell are involved in DNA mismatch repair related functions with a small fraction of the complexes devoted to FA signaling. Several studies have implicated the role of MutS complexes in DNA cross-link repair [27–29,38–41]. Purified MutSα and MutSβ complexes have both been shown to bind directly to synthetic substrates harboring DNA cross-links or structures related to stalled replication forks [29–31,40].
The clinical development of inhibitors of poly(ADP-ribose) polymerase
2011, Annals of OncologyCitation Excerpt :There are many examples of hereditary defects in DNA repair enzymes associated with predisposition to cancer. Defects in mismatch repair (MMR) are associated with hereditary non-polyposis colon cancer (HNPCC) [2]. The gene that is mutated in ataxia telangetactasia (ATM), a cancer-prone disease, is involved in DNA repair [3] as are the Fanconi proteins, which are characteristically mutated in the Fanconi syndromes [4].
Overview of research progress and application of experimental models of colorectal cancer
2023, Frontiers in Pharmacology
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Support was provided by grants from the American Cancer Society grant #EDT-84, the Council for Tobacco Research U.S.A., Inc. grant #1297E.