Maaike P G Vreeswijk
Overview
Explore the profile of Maaike P G Vreeswijk including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
59
Citations
2688
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Parsons M, de la Hoya M, Richardson M, Tudini E, Anderson M, Berkofsky-Fessler W, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2044-2058.
PMID: 39142283
The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as...
2.
Zanti M, OMahony D, Parsons M, Li H, Dennis J, Aittomakkiki K, et al.
Hum Mutat
. 2024 May;
2023.
PMID: 38725546
A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and...
3.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martinez E, Esteban-Sanchez A, Lorca V, Llinares-Burguet I, et al.
Clin Chem
. 2023 Sep;
70(1):319-338.
PMID: 37725924
Background: Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast cancer susceptibility gene CHEK2 by splicing reporter...
4.
van Wijk L, Vermeulen S, Ter Haar N, Kramer C, Terlouw D, Vrieling H, et al.
Breast Cancer Res Treat
. 2023 Sep;
202(3):607-616.
PMID: 37725154
Purpose: BRCA-deficient breast cancers (BC) are highly sensitive to platinum-based chemotherapy and PARP inhibitors due to their deficiency in the homologous recombination (HR) pathway. However, HR deficiency (HRD) extends beyond...
5.
Morra A, Mavaddat N, Muranen T, Ahearn T, Allen J, Andrulis I, et al.
Am J Hum Genet
. 2023 Feb;
110(3):475-486.
PMID: 36827971
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The...
6.
Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning M, Moghadasi S, et al.
Clin Cancer Res
. 2022 Oct;
28(20):4588.
PMID: 36239017
No abstract available.
7.
Thomassen M, Mesman R, Hansen T, Menendez M, Rossing M, Esteban-Sanchez A, et al.
Hum Mutat
. 2022 Aug;
43(12):1921-1944.
PMID: 35979650
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess...
8.
Boonen R, Vreeswijk M, van Attikum H
Trends Cancer
. 2022 Jun;
8(9):759-770.
PMID: 35643632
Protein-truncating variants in the breast cancer susceptibility gene CHEK2 are associated with a moderately increased risk of breast cancer. By contrast, for missense variants of uncertain significance (VUS) in CHEK2...
9.
Dorling L, Carvalho S, Allen J, Parsons M, Fortuno C, Gonzalez-Neira A, et al.
Genome Med
. 2022 May;
14(1):51.
PMID: 35585550
Background: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods:...
10.
Mavaddat N, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Keeman R, et al.
JAMA Oncol
. 2022 Jan;
8(3):e216744.
PMID: 35084436
Importance: Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant...