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Marleen Dekker
Netherlands Cancer Institute
21Publications
12H-index
1,636Citations
Publications 23
Newest
#2Marleen DekkerH-Index: 12
Last.Hein te RieleH-Index: 29
view all 8 authors...
Background: Inactivating mutations in the MLH1 DNA mismatch repair (MMR) gene underlie 42% of Lynch syndrome (LS) cases. LS is a cancer predisposition causing early onset colorectal and endometrial cancer. Nonsense and frameshift alterations unambiguously cause LS. The phenotype of missense mutations that only alter a single amino acid is often unclear. These variants of uncertain significance (VUS) hinder LS diagnosis and family screening and therefore functional tests are urgently needed. We d...
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#1Bente Benedict (NKI-AVL: Netherlands Cancer Institute)H-Index: 1
#2Tanja van Harn (NKI-AVL: Netherlands Cancer Institute)H-Index: 1
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
view all 11 authors...
Healthy cells go through a strictly regulated process called the cell cycle in order to divide. During this cycle the cell’s DNA is duplicated and the two copies are equally distributed between the two newly formed cells. Duplicating DNA is a complex procedure that can go wrong and damage the DNA. This damage, in turn, can cause cells to stop growing or even die. Normal cells only start replicating their DNA when there are substances known as growth factors in the environment. Without growth fac...
1 CitationsSource
#1Bente Benedict (NKI-AVL: Netherlands Cancer Institute)H-Index: 1
#2Tanja van Harn (NKI-AVL: Netherlands Cancer Institute)H-Index: 1
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
view all 11 authors...
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#1Hellen Houlleberghs (NKI-AVL: Netherlands Cancer Institute)H-Index: 3
#2Anne Goverde (Erasmus University Medical Center)H-Index: 3
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
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Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in suspected-LS patients. To conclusively diagnose LS and enroll patients in appropriate ...
3 CitationsSource
#1Hellen Houlleberghs (NKI-AVL: Netherlands Cancer Institute)H-Index: 3
#2Marleen Dekker (NKI-AVL: Netherlands Cancer Institute)H-Index: 12
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
view all 8 authors...
Single-stranded DNA oligonucleotides can achieve targeted base-pair substitution with modest efficiency but high precision. We show that "oligo targeting" can be used effectively to study missense mutations in DNA mismatch repair (MMR) genes. Inherited inactivating mutations in DNA MMR genes are causative for the cancer predisposition Lynch syndrome (LS). Although overtly deleterious mutations in MMR genes can clearly be ascribed as the cause of LS, the functional implications of missense mutati...
14 CitationsSource
#1Thomas W. van Ravesteyn (NKI-AVL: Netherlands Cancer Institute)H-Index: 2
#2Marleen Dekker (NKI-AVL: Netherlands Cancer Institute)H-Index: 12
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
view all 7 authors...
Synthetic single-stranded DNA oligonucleotides (ssODNs) can be used to generate subtle genetic modifications in eukaryotic and prokaryotic cells without the requirement for prior generation of DNA double-stranded breaks. However, DNA mismatch repair (MMR) suppresses the efficiency of gene modification by >100-fold. Here we present a commercially available ssODN design that evades MMR and enables subtle gene modification in MMR-proficient cells. The presence of locked nucleic acids (LNAs) in the ...
12 CitationsSource
#1Kamila Wojciechowicz (NKI-AVL: Netherlands Cancer Institute)H-Index: 3
#2Erika Cantelli (NKI-AVL: Netherlands Cancer Institute)H-Index: 1
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
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Background & Aims Lynch syndrome, a nonpolyposis form of hereditary colorectal cancer, is caused by inherited defects in DNA mismatch repair (MMR) genes. Most patients carry a germline mutation in 1 allele of the MMR genes MSH2 or MLH1 . With spontaneous loss of the wild-type allele, cells with defects in MMR exist among MMR-proficient cells, as observed in healthy intestinal tissues from patients with Lynch syndrome. We aimed to create a mouse model of this situation to aid in identification of...
11 CitationsSource
#1Tinke L. Vormer (NKI-AVL: Netherlands Cancer Institute)H-Index: 2
#2Kamila Wojciechowicz (NKI-AVL: Netherlands Cancer Institute)H-Index: 3
Last.H. te RieleH-Index: 6
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The retinoblastoma protein pRB and its two homologs p130 and p107 form the family of pocket proteins and play a major role in cell-cycle regulation and suppression of human and mouse tumorigenesis. Pocket proteins regulate the activity of E2F transcription factors during G 1 –S transition. Two mechanisms have been described: (i) pocket protein binding blocks the transactivation domain of activator E2Fs, inhibiting E2F-dependent transcription and (ii) E2F-bound pocket proteins can recruit chromat...
9 CitationsSource
#1Marleen Dekker (NKI-AVL: Netherlands Cancer Institute)H-Index: 12
#2Sandra S. de Vries (NKI-AVL: Netherlands Cancer Institute)H-Index: 10
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
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Abstract Short synthetic single-stranded oligodeoxyribonucleotides (ssODNs) can be used to introduce subtle modifications into the genome of mouse embryonic stem cells (ESCs). We have previously shown that effective application of ssODN-mediated gene targeting in ESC requires (transient) suppression of DNA mismatch repair (MMR). However, whereas transient down-regulation of the mismatch recognition protein MSH2 allowed substitution of 3 or 4 nucleotides, 1 or 2 nucleotide substitutions were stil...
15 CitationsSource
#1Marieke Aarts (NKI-AVL: Netherlands Cancer Institute)H-Index: 7
#2Marleen Dekker (NKI-AVL: Netherlands Cancer Institute)H-Index: 12
Last.Hein te Riele (NKI-AVL: Netherlands Cancer Institute)H-Index: 29
view all 7 authors...
8 CitationsSource
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