Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Linda AJ Hendricks , Nicoline Hoogerbrugge , Arjen R Mensenkamp , Joan Brunet
JNCI: Journal of the National Cancer Institute 115 ( 1) 93 -103
19
2023
CHAPTER FOUR EXTRA COLONIC CANCER RISK IN LYNCH SYNDROME SANNE W. TEN BROEKE
ANNE-SOPHIE VAN DER WERF , T LAM , MAARTJE NIELSEN
Hereditary and Familial Colorectal Cancer 69 -69
2022
[Genetic testing in patients with cancer; new developments].
Nicoline Hoogerbrugge , Jan C Oosterwijk , Marjolijn J L Ligtenberg , Maartje Nielsen
Nederlands Tijdschrift voor Geneeskunde 163
1
2019
Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
Carien L Creutzberg , Ludy C H W Lutgens , Ellen Stelloo , Vincent T H B M Smit
Journal of the National Cancer Institute
2021
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Magnus von Knebel Doeberitz , Elke Holinski-Feder , Stefan Aretz , Gabriela Möslein
European Journal of Cancer 148 124 -133
2021
The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations.
Maartje Nielsen , Hans Morreau , Diantha Terlouw , Manon Suerink
Critical Reviews in Oncology Hematology 163 103338
2021
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Toni T Seppälä , Aysel Ahadova , Mev Dominguez-Valentin , Finlay Macrae
Hereditary Cancer in Clinical Practice 17 ( 1) 8 -8
20
2019
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
Mev Dominguez-Valentin , Toni T Seppälä , Julian R Sampson , Finlay Macrae
Hereditary Cancer in Clinical Practice 17 ( 1) 28
12
2019
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
Victoria M. James , Anna Bode , Seo-Kyung Chung , Jennifer L. Gill
Neurobiology of Disease 52 137 -149
43
2013
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Fadwa A. Elsayed , Carli M. J. Tops , Maartje Nielsen , Dina Ruano
Molecular Genetics & Genomic Medicine 7 ( 4)
4
2019
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
Marijke Wasielewski , Astrid A. Out , Joyce Vermeulen , Maartje Nielsen
Breast Cancer Research and Treatment 124 ( 3) 635 -641
30
2010
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome
Mariano Golubicki , Laia Bonjoch , José G. Acuña-Ochoa , Marcos Díaz-Gay
JCI insight 5 ( 18)
3
2020
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
Maartje Nielsen , Elsa Bik , Frederik J Hes , Martijn H Breuning
European Journal of Human Genetics 15 ( 10) 1034 -1042
30
2007
Leiden open variation database of the MUTYH gene
Astrid A. Out , Carli M.J. Tops , Maartje Nielsen , Marjan M. Weiss
Human Mutation 31 ( 11) 1205 -1215
60
2010
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
Maartje Nielsen , Noel FCC de Miranda , Marjo van Puijenbroek , Ekaterina S Jordanova
BMC Cancer 9 ( 1) 184 -184
47
2009
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue
Marthe M. de Jonge , Dina Ruano , Ronald van Eijk , Nienke van der Stoep
The Journal of Molecular Diagnostics 20 ( 5) 600 -611
9
2018
Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
Maartje Nielsen , Frederik J Hes , Hans FA Vasen , Wilbert B van den Hout
BMC Medical Genetics 8 ( 1) 42 -42
16
2007
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Cindy Chau , Remco van Doorn , Natasha M van Poppelen , Nienke van der Stoep
Cancers 11 ( 8) 1114
15
2019
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
Maartje Nielsen , Mirjam C. Joerink - van de Beld , Natalie Jones , Stefanie Vogt
Gastroenterology 136 ( 2) 471 -476
127
2009
Increased Colorectal Cancer Incidence in Obligate Carriers of Heterozygous Mutations in MUTYH
Natalie Jones , Stefanie Vogt , Maartje Nielsen , Daria Christian
Gastroenterology 137 ( 2) 489 -494
93
2009