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Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

Constitutional mismatch repair deficiency (CMMRD) is associated with high cancer incidence early in life. Here, the authors perform a genomic analysis of CMMRD-associated tumors and find mutational patterns influenced by the affected mismatch repair gene, tumour type, and treatment history.

Dilys D. Weijers
Snežana Hinić
Roland P. Kuiper
ResearchOpen Access14 May 2025
Nature Communications

Volume: 16, P: 1-13
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Roland Kuiper and colleagues identify a homozygous germline nonsense mutation in the base-excision repair gene NTHL1 in three families with recessive inheritance of adenomatous polyposis.

Robbert D A Weren
Marjolijn J L Ligtenberg
Nicoline Hoogerbrugge
Research04 May 2015
Nature Genetics

Volume: 47, P: 668-671
A planet within the debris disk around the pre-main-sequence star AU Microscopii

A transiting planet with a period of about 8.5 days and a radius 0.4 times that of Jupiter is reported within the debris disk around the star AU Microscopii.

Peter Plavchan
Thomas Barclay
Perri Zilberman
Research24 Jun 2020
Nature

Volume: 582, P: 497-500
A RAG driver on the road to pediatric ALL

Genomic aberrations affecting genes in B cell differentiation are hallmarks of B-precursor acute lymphoblastic leukemia (ALL). A new whole-genome sequencing study of ETV6-RUNX1–positive ALL has now identified RAG-mediated recombination, which specifically targets genes and regulatory elements active during B cell differentiation, as the underlying mechanism.

Roland P Kuiper
Esmé Waanders
News & Views29 Jan 2014
Nature Genetics

Volume: 46, P: 96-98
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

Joop Jansen and colleagues report the identification of somatic mutations altering the histone methyltransferase EZH2 in myelodysplastic syndromes. They find EZH2 deletions, missense and frameshift mutations in about 23% of myelodysplastic syndrome samples.

Gorica Nikoloski
Saskia M C Langemeijer
Joop H Jansen
Research04 Jul 2010
Nature Genetics

Volume: 42, P: 665-667
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Richarda M. de Voer
Marc-Manuel Hahn
Roland P. Kuiper
ResearchOpen Access11 Sept 2015
Scientific Reports

Volume: 5, P: 1-7
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Marjolijn C J Jongmans
Ineke van der Burgt
Nicoline Hoogerbrugge
ResearchOpen Access16 Mar 2011
European Journal of Human Genetics

Volume: 19, P: 870-874
Antagonism of B cell enhancer networks by STAT5 drives leukemia and poor patient survival

Transcription factors compete for superenhancer sites and have antagonist functions. Farrar and colleagues identify regulatory competition between STAT5 and IKAROS or NF-κB in B cells and show that the ratio of STAT5 to IKAROS or to NF-κB can serve as a prognostic marker of disease severity of the leukemia B-ALL.

Casey D S Katerndahl
Lynn M Heltemes-Harris
Michael A Farrar
Research03 Apr 2017
Nature Immunology

Volume: 18, P: 694-704
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

Marjolijn Ligtenberg and Suet Leung and colleagues report the identification of germline deletions in TACSTD1, a gene directly upstream of MSH2, in families with Lynch syndrome. The deletions result in transcriptional read-through of TACSTD1 into MSH2, and methylation and silencing of the MSH2 allele.

Marjolijn J L Ligtenberg
Roland P Kuiper
Nicoline Hoogerbrugge
Research21 Dec 2008
Nature Genetics

Volume: 41, P: 112-117
A ring system detected around the Centaur (10199) Chariklo

Observations of a stellar occultation by (10199) Chariklo, a minor body that orbits the Sun between Jupiter and Neptune, reveal that it has a ring system, a property previously observed only for the four giant planets of the Solar System.

F. Braga-Ribas
B. Sicardy
D. G. Lambas
Research26 Mar 2014
Nature

Volume: 508, P: 72-75
Acquired mutations in TET2 are common in myelodysplastic syndromes

Joop Jansen and colleagues show that myelodysplastic syndromes frequently harbor somatic mutations in TET2. Analysis of lineage markers suggests that TET2 mutations are early events contributing to malignant transformation.

Saskia M C Langemeijer
Roland P Kuiper
Joop H Jansen
Research31 May 2009
Nature Genetics

Volume: 41, P: 838-842
Mutational mechanisms in multiply relapsed pediatric acute lymphoblastic leukemia

Cédric G. van der Ham
Lianne C. Suurenbroek
Roland P. Kuiper
ResearchOpen Access04 Sept 2024
Leukemia

Volume: 38, P: 2366-2375
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Marshall Horwitz, Charles Mullighan, Kenneth Offit and colleagues report the identification of a recurrent germline PAX5 mutation in families with pre–B cell acute lymphoblastic leukemia. They also identify sporadic cases of this leukemia with the same mutation that arose somatically.

Sohela Shah
Kasmintan A Schrader
Kenneth Offit
Research08 Sept 2013
Nature Genetics

Volume: 45, P: 1226-1231
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Ingrid P Vogelaar
Rachel S van der Post
Nicoline Hoogerbrugge
ResearchOpen Access06 Sept 2017
European Journal of Human Genetics

Volume: 25, P: 1246-1252
Overt and covert genetic causes of pediatric acute lymphoblastic leukemia

Ulrik Stoltze
Stefanie V. Junk
Kjeld Schmiegelow
Reviews24 Mar 2025
Leukemia

Volume: 39, P: 1031-1045
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

E Waanders
B Scheijen
R P Kuiper
Research13 Oct 2016
Leukemia

Volume: 31, P: 821-828

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Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

A planet within the debris disk around the pre-main-sequence star AU Microscopii

A RAG driver on the road to pediatric ALL

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Antagonism of B cell enhancer networks by STAT5 drives leukemia and poor patient survival

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

A ring system detected around the Centaur (10199) Chariklo

Acquired mutations in TET2 are common in myelodysplastic syndromes

Mutational mechanisms in multiply relapsed pediatric acute lymphoblastic leukemia

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Overt and covert genetic causes of pediatric acute lymphoblastic leukemia

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

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